2003 MCRI Annual Report by Murdoch Children's Research Institute

■0.

»'i ;i&; .'’il''

»:

a# f'

■dt*

HEALTHIER KIDS HEALTHIER FUTURE

wm:m'

mmm

,a !

PATRON Dame Elisabeth Murdoch AC DBE CHAIRMAN Mr Laurence G Cox AO DIRECTOR Professor Robert Williamson AO FRS FAA AMBASSADOR Sarah O'Harp

MURDOCH CHILDRENS RESEARCH INSTITUTE 2003

RESEARCH REPORTS

Molecular Development

Adolescent Health

Neonatal Neurology

Allied Health & Nursing, Anaesthesia & Pain Management

Neonatal Research

Neurosciences

1 lU

I-

Who we are, what we do

Highlights 2003

Organisational Chart

Arthritis Research

Orthopaedics & Gait Analysis

Board of Directors

Asthma, Allergy & Immune Disorders,

Pituitary Research, Psychological Development

Board Committees

Behavioural Genetics

Public Health Genetics

Executive Committee

Cancer Biology Therapies & Trials

Staph & Strep, Surgical Research

Q£

Chairman's Report

Cancer Genomics

Director's Report

Cell & Gene Therapy

Our Supporters

Cell & Matrix Biology

Obituary - David Danks

Management Report

Child Development & Rehabilitation, Clinical Trials

Biotechnology & Commercialisation

Chromosome Research

Clinical Epidemiology & Biostatistics

Community Child Health

Cord Blood Bank, Craniofacial Sciences

Dermal Therapeutics, Disease Models

Embryology, Enteric Viruses

Ethics

Gene Identification & Expression

Genetic Education

Genetic Health Research, Germ Cell Research

Gut & Liver Disorders

Heart Research

Hormone Research

International Child Health, Microbiology & Infectious Diseases

Mitochondrial Research

hto

GENETIC HEALTH SERVICES VICTORIA 56

Genetic Health Services Victoria

FINANCIAL REPORT

Financial Report

OUR RESULTS

X U

Publications

O o 0£

OUR TEAM 76

Staff list

OUR SUPPORTERS 82

NHMRC Awards

External Grants

MCRI Internal Grants

Donations

ANNUAL REPORT 2003

WHO WE ARE, WHAT WE DO

Murdoch Childrens Research Institute (MCRI) is the largest research institute in

■

Australia specialising in child and adolescent health.

WHO WE ARE

WHAT WE DO

MCRI conducts life-saving medical research and community health research into conditions that affect babies, children and adolescents.

We are focused on important emerging child health issues like premature birth, childhood obesity and adolescent depression, substance use and eating disorders. This research will improve health care, education and prevention.

Located at the Royal Children's Hospital and affiliated to the University of Melbourne, we are well placed to translate world-class paediatric research into better treatment, community education, prevention and care. Our team of more than 500 researchers, including 60 postgraduate students, has created an international reputation for the Institute. MCRI is an independent, non-profit organisation, with support from government, corporate and private donors. OUR HISTORY

MCRI was formed in early 2000, following the merger of the Murdoch Institute and Royal Children's Hospital Research Institute, continuing a proud 100-year history of excellence in child and adolescent health research. Professor David Danks and founding donors Dame Elisabeth Murdoch, Sir Jack Brockhoff and others, established the original Murdoch Institute in 1984. The Murdoch Institute was renowned for human genetics and ethics research, and for excellent clinical care for people with inherited diseases.

ANNUAL REPORT 2003

Development of new vaccines and genetic technologies to improve child health are also a priority. Cell-based and gene therapies are particularly strong areas of research, utilising stem cell technology and information from the human genome project. We engage in ethics research and public debate of controversial issues like stem cell research. Other current areas of research include arthritis, asthma, autism, cerebral palsy, deafness, diabetes, Down syndrome, Friedreich ataxia, infectious diseases, leukaemia, liver disease, muscular dystrophy, osteogenesis imperfecta and thalassaemia.

i'''

HIGHLIGHTS 2003 • We increased our total research grant income to $21 million • We were awarded five Fellowships and 15 Project Grants from the National Health and Medical Research Council, with funding totalling $5,188,125

111

I-

• A National Cerebral Palsy Register was established by a team led by Dinah Reddihough

• A total of eight Australian and international patents were filed for our research

Z X

• Andrew Sinclair was elected President of the Australian Society for Medical Research

u ee

< lU (/)

• Australian of the Year, Professor Fiona Stanley, spoke at our AGM about the challenges in child health and our contribution in several key areas •

Dame Elisabeth Murdoch and Sarah O'Hare were honoured for their commitment to medical research at Research Australia's Thank You Day Awards

• We published more than 350 peer-reviewed research papers in national and international journals • We developed software to calculate maternal age risk of Down syndrome for general practitioners to use with pregnant women •

Funding was secured by Rio Tinto and the Ian Potter Foundation to fully evaluate the impact of skin infections on health in remote Aboriginal communities in the Northern Territory

• At the XIX International Congress of Genetics in Melbourne, our education team organised the highly-successful Human Genetics and Global Healthcare symposium •

HaemScreen tested almost 10,000 people for risk of developing haemochromatosis

111

0£

Cancer patient Emma Millard.

•

Our newly-formed Development Board, together with Rove McManus and our Ambassador Sarah O'Hare, hosted a function on Crown Oaks Day at Flemington, raising more than $170,000

•

Important emerging child health issues like premature birth, childhood obesity and adolescent depression, substance use and eating disorders were a focus

•

Major grants were awarded from the USA including Juvenile Diabetes Research Foundation International, and Muscular Dystrophy Association grants Melbourne's Jewish community funded a new genetic testing initiative to prevent Tay Sachs disease

•

National Institutes of Health (USA) awarded more than $1 million for Chromosome Research

•

19 clinical drug trials in children were completed, commenced or in the pipeline during 2003

• 350 supporters of the Centre for Hormone Research

attended a function that raised $140,000 for research into childhood diabetes, psoriasis and growth disorders

u oe Q

• The Bruce Lefroy Centre was launched to advance research into genetic diseases such as Friedreich ataxia and haemochromatosis

• The cord blood bank banked 962 cord blood units and provided blood for eight transplants to children with cancer • The Islamic community raised more than $170,000 towards the purchase of equipment for diagnosis of genetic diseases • We began testing 6000 primary school students for hearing loss, to explore the effects of impaired hearing on learning, language and health •

MCRI was one of only 114 organisations in Australia named an Employer of Choice for Women by the Equal Opportunity for Women in the Workplace Agency ANNUAL REPORT 2003 • 3

o Q oe

Organisational Chart The Board Chairman

Director Professor Robert

Laurence Cox AO

Williamson AO FRS FAA

Members

Executive Committee

Stakeholders

Internal Committees Career Grant

Board Committees Audit, Finance & Risk Management Commercialisation & IP Development Board Investment Remuneration Research Advisory

Occupational Health & Safety Trainee Research Scholarships Ethics Genetic Education

Chief Operating Officer

Laboratory Research

Clinical Research

Associate Director Anne Cronin

Associate Director Professor John Bateman

Administrative Support

Arthritis Research

Associate Directors Professor FI Kerr Graham Professor John Hutson

Bioinformatics

Behavioural Genetics

Allied Health & Nursing

Building & Scientific

Cancer Genomics

Services

Cell & Gene Therapy

Anaesthesia & Pain Management

Commercialisation

Cell & Matrix Biology

Public Relations

International Child Health

Chromosome Research

Therapies & Trials

Graphic Design

Dermal Therapeutics

Human Resources & Industrial Relations

Disease Models

Child Development & Rehabilitation

Embryology

Clinical Trials

Enteric Viruses

Craniofacial Sciences

Gene Identification & Expression

Gut & Liver Disorders

Germ Cell Research

Heart Research

Hormone Research

Neonatal Neurology

Microbiology & Infectious Diseases

Neonatal Research

Technical Support

Mitochondrial Research

Community Child Health

Cancer Biology,

Cord Blood Bank

Payroll

Adolescent Health

Clinical Epidemiology & Biostatistics

Financial Services

Strategy Associate Director Professor Andy Choo

Professor George Patton

Asthma, Allergy & Immune Disorders

Grants Office

Information Technology

Public Health Research Associate Directors Professor Frank Oberklaid

Public Health & Genetics

Gut Motility

■t

Neurosciences

Molecular Development

Orthopaedics & Gait Analysis

Pituitary Research

Psychological

Staph & Strep

Development

i if

■I

iili j

BOARD OF DIRECTORS Directors bring to the board a diverse range of expertise across business and finance, health and research. a.

I c.

CHAIRMAN Mr Laurence G Cox AO Investment banker and a director of Macquarie Bank Limited, as well as various public and private companies and community groups DEPUTY CHAIRMAN Mr WH Hodgson Formerly Deputy Managing Director of the National Australia Bank Limited and currently a director of various public and private companies Associate Professor Kathy Alexander Chief Executive Officer of Women's and Children's Health

I-

(/> Z X

u Of

Mrs Judy Paterson Director of Ace Radio Broadcasters

Professor Richard Smallwood AO Chief Medical Officer for the Commonwealth of Australia

LU 00 lU Of t/)

Z LU 0£

Associate Professor Anthony Dart Senior Principal Research Fellow, NHMRC and Honorary Professor of Medicine, Monash University

Mr Martin Armstrong Lawyer and a director of various public and private companies and community groups

Mrs Janet Calvert-Jones AM Chairman of Herald and Weekly Times Limited

Ms Jane Fenton Director of Fenton Communications, Chairman of VicHealth and a Life Governor for Very Special Kids Mr Peter Griffin Investment banker and a director of NM Rothschild & Sons Pty Ltd Group companies, various public companies and community groups

Professor Glenn Bowes Stevenson Professor of Paediatrics, University of Melbourne

Professor Geoff Tregear Deputy Director of the Howard Florey Institute of Experimental Physiology and Medicine

Professor Robert Williamson FRS FAA Director of MCRI, Chairman of the Victorian Clinical Genetics Services, and David Danks Professor of Medical Genetics, University of Melbourne

C£

RESIGNATIONS Mr Peter Bartels (August 2003) Mrs Patricia Cross (October 2003) Ms Kerrie Cross (December 2003)

ANNUAL REPORT 2003

BOARD COMMITTEES Audit, Finance & Risk Management Committee Monitors the systems and controls established to safeguard the Institute's assets. CHAIRMAN Mr WH Hodgson Mr Martin Armstrong Mr Laurence G Cox AO Mr David Craig Ms Anne Cronin

Development Board Provides strategic advice and direction for communications, development and events. Its purpose is to engage a new generation of supporters for MCRI. a.

CHAIRMAN Ms Jane Fenton

Ms Prue Brown

Mr David Calvert-Jones Ms Karina Calvert-Jones Ms Suzi Carp Mr Antony Catalano

d Commercialisation & IP Committee Advises the Board on business development opportunities for the biotechnology and pharmaceutical industries and on related issues including patent protection.

e f g

CHAIRMAN Professor Geoff Tregear

I k I

Mr Martin Armstrong

m n

Ms Linda Berry Ms Anne Cronin Mr Bob Moses Mr George Raitt

ANNUAL REPORT 2003

Dr Narelle Curtis Ms Aimee Dean-Pritchard Ms Alexandra Lowen Mr Fraser Macvean Mr Hamish McLachlan Mr Jason Newman Mr Ryan O'Hare Ms Sarah O'Hare Mr Sam Patterson Mr Patrick Upfold

Investment Committee

Remuneration Committee

Advises on the financial investments of the Institute.

Mr Laurence G Cox AO

Mr WH Hodgson

CHAIRMAN Mr Peter Griffin

Professor Richard Smallwood AO

Mr Laurence G Cox AO Mr David Craig Mr Simon Dighton Mr Dominic Leary Mr Ian Miller Mr John Nickson

Assesses applications for research funding across the diverse range of activities on campus.

Mr Josef Czyzewski (not pictured)

Professor Glenn Bowes

Research Advisory Committee r. s. f. u. V.

RESIGNATIONS Mrs Patricia Cross (October 2003) Mr Ian Veal (August 2003)

CHAIRMAN Professor Geoff Tregear

Dr Georgia Chenevix-Trench Ms Anne Cronin Dr Tony Cull Dr Paul Ekert

Genetic Health* Board

Associate Professor Elizabeth Elliott Professor Christopher Fairley

CHAIRMAN Professor Bob Williamson FRS FAA Associate Professor Agnes Bankier Professor Graeme Barnes Mr Laurence G Cox AO Mr WH Hodgson Professor Stephen Holdsworth Professor Finlay Macrae Dr Peter McDougall

Professor Nick Hoogenraad Professor John Hopper Professor Frank Oberklaid Professor Brian Oldenburg Professor George Patton Professor Sheena Reilly Associate Professor Andrew Sinclair Associate Professor Euan Wallace Professor Robert Williamson FRS FAA

*(Victorian Clinical Genetics Services)

ANNUAL REPORT 2003

EXECUTIVE COMMITTEE Comprised of the Chairman, Director and Director of Operations and six associate directors, appointed for their expertise in laboratory, clinical or public health research, this committee meets fortnightly to advise the Director on research strategy, major funding opportunities, infrastructure developments, appointments and other operational issues.

Professor John Bateman Associate Director, Laboratory Research

Associate Professor Andy Choo Associate Director, Strategy

Mr Laurence G Cox AO MCRI Chairman

Ms Anne Cronin Associate Director, Operations

Professor John Hutson Associate Director, Clinical Research

Professor H Kerr Graham Associate Director, Clinical Research

Professor George Patton Associate Director, Public Health

Professor Frank Oberklaid Associate Director, Public Health Professor Robert Williamson FRS FAA MCRI Director Invited to attend Professor Glenn Bowes Stevenson Professor of Paediatrics Dr Tony Cull Executive Director, Royal Children's Hospital

8 ^ ANNUAL REPORT 2003

CHAIRMAN'S REPORT 2003 was a year of growth and opportunity for MCRI. National and international grant funding increased, the institute grew to a staff of 612, including 63 students, and our researchers published more than 350 peer-reviewed publications. Construction of the new research building, which we share with the Royal Children's Hospital, was well underway. COMPETITIVE FUNDING

We have been able to sustain our growth due to success in winning competitive national and international grants. In 2003, our success rate with project grants was exceptional, reflecting the calibre of our research. 33 percent of applications to the National Health and Medical Research Council were awarded funding, with total funding at $5,188,125 (up from $3,507,000 the previous year). 15 project grants and five fellowships were awarded for research commencing in 2004. Congratulations to the researchers who succeeded with grant applications.

FINANCIAL HIGHLIGHTS

AN EMPLOYER OF CHOICE FOR WOMEN

In 2003, the income of the Institute rose to $43.8 million, while expenditure was just under $43.5 million. Our operating costs remained low with less than one percent of total expenditure spent on development and fundraising and less than five percent spent on administration as a whole.

MCRI was named an employer of choice for women, by the Equal Opportunity for Women in the Workplace Agency. This prestigious award was given to only 114 organisations in Australia. I would like to congratulate the Gender Equity Committee and Bob Williamson for their hard work and commitment to this important area.

Our donation income increased by 20 percent on the previous year, to a total of more than $3.4 million. Our total income from research grants increased to $21 million. We are very proud that 95 percent of funds went directly to research to improve the health and wellbeing of children.

REVIEW OF LABORATORY RESEARCH

An independent committee, chaired by Professor Jeffrey Whitsett from Cincinnati, reviewed our laboratory research programs and submitted a very pleasing report to the Board in December. The review concluded that much of the research at MCRI is truly world-class.

ANNUAL REPORT 2003

chairing the Commercialisation, and Research Advisory Committees. This year also saw the formation of a new Development Board, chaired by Jane Fenton. Within just eight months this group had proven its promise, bringing a new generation of supporters, greater awareness and support to MCRI.

PROFESSOR DAVID DANKS AO

While we celebrated good progress, sad news forced us to reflect on our past. In July our founding director. Professor David Danks, passed away. David was a monumental figure in Australian science, and founded the Murdoch Institute in 1986. David's family can be proud of his legacy, particularly as the Institute continues to grow and extend its influence as genetics has an ever-wider impact in medicine and the community (see obituary page 16). DAME ELISABETH MURDOCH AC DBE

Research Australia recognised the contribution of our patron. Dame Elisabeth Murdoch, to health and research in Australia, awarding her the Great Australian Philanthropy Award for her support of many research enterprises, including the Murdoch Childrens Research Institute. I would like to personally thank her for her unwavering commitment.

•i:

Laurie Cox and Dame Elisabeth Murdoch.

Key recommendations for consideration included clustering of aligned research groups, planning for new research facilities, and enhancing research infrastructure allocation.

10 f ANNUAL REPORT 2003

THE BOARD

MCRI is fortunate to have a talented Board committed to the growth of the Institute. I am grateful for the support of Deputy Chairman Bill Hodgson, who chairs the Audit, Finance & Risk Management Committee. I thank Peter Griffin for his dedication to, and leadership of, the Investment Committee, and Geoff Tregear for

Mr Laurence G Cox AO Chairman

from inherited arthritis syndromes by replacing bone and cartilage cells. The MCRI and Royal Children's Hospital cord blood bank provided blood stem cells for transplants into cancer patients, part of a worldwide network of cord blood banks working together to save children with leukaemia. Our laboratory researchers studied human artificial chromosomes to ensure safe and efficient gene transfer, and developed animal models for treating diseases such as ataxia and thalassaemia. CHILDREN ON THE NATIONAL AGENDA

2003 was a year when children featured on the national agenda. Australians became concerned about health and social problems such as diabetes, low birth-weight, childhood obesity, asthma and mental illness. Parents, professionals and governments want to ensure the best possible health for all Australian children.

DIRECTOR'S REPORT STRENGTH IN PARTNERSHIP

THE EXCITING PACE OF DISCOVERY

Once again our collaborative teams, working together with top clinicians and researchers from the Royal Children's Hospital and the University of Melbourne's Department of Paediatrics, produced results that will be applied from bench to bedside to community.

In 2003, our neonatal neurologists used MRI scans of newborns to propose treatments for premature babies with poor brain development, and our pain management researchers monitored brain activity during anaesthesia to improve outcomes for children undergoing surgery.

The link between research and clinical care was particularly strong in departments like heart research. This year a study demonstrated that a new type of operation results in better cardiac function in children with heart disease — the Royal Children's Hospital has now adopted it as part of routine surgery.

We developed exciting therapies using stem cells. With the support of several Rotary clubs we will soon see young children with liver disease treated with a radical new therapy that Involves regenerating the liver with healthy donor cells. We worked on similar techniques to treat deafness in infancy by reconstituting the hair cells In the Inner ear, and to help children suffering

This year MCRI played an active role in the Australian Alliance for Children and Youth, led by Professor Fiona Stanley — guest speaker at our 2003 AGM. This national collaboration of researchers, policy makers and practitioners hopes to address adverse trends in health and wellbeing among children and adolescents. Our researchers also contributed to developing a national collaborative study called 'Growing up in Australia', which will examine the impact of family and social environment on 10,000 infants and children across Australia. We are committed to ensuring research is more accessible to policy-makers and service providers. OUR WORLD-CLASS TEAM

We had our most successful year ever for NHMRC grants In 2003. We also won funding from the National Institutes of Health and other United States funding bodies, confirming that we are competitive on the world research stage. ANNUAL REPORT 2003

D (/>

u <

in lU

Of tn

Z lU

o X

u X

u O o 0£

Our researchers published more than 350 peerreviewed papers. Many staff won honours and awards, and secured appointments on grants and policy committees in Australia and overseas. This helped benchmark our efforts against the best international science. EDUCATION AND TRAINING

Our education and training programs continued to expand. We have more than 60 PhD students registered for higher degrees, mostly through the University of Melbourne — among them Clinical Fellows undertaking higher research studies. Above: Bob Williamson and Natasha Stott Despoja, who have a shared interest in advancing ethical human genetics, at the AGM; below, from left: Laurie Cox, Fiona Stanley, Dame Elisabeth Murdoch and Bob Williamson.

These academic clinicians will be the translators of tomorrow's research into clinical care. We also delivered clinical genetic services to the whole of Victoria, including community screening for

haemochromatosis, a new initiative that has been applauded internationally. RESEARCH THAT REACHES THE COMMUNITY

MCRI's education, public relations and ethics teams helped make our research accessible to the community, through a number of innovative programs. A major highlight this year was the XIX International Congress of Genetics, which was held in Melbourne and generated much public interest and debate around genetics. Six Noble Laureates and 3000 genetics researchers from around the world attracted public discussion of issues like genetic testing, and highlighted exciting advances in technology. Our genetic education team used the opportunity to launch The Genetics File, a resource for general practitioners to help diagnose and counsel patients with genetic disorders. AN EXCITING FUTURE

After almost 10 years as Director, it is time for a new leader to take the helm. I am delighted that Professor Terry Dwyer, a clinical scientist of the highest status, will be the new Director from late 2004. I know that the MCRI will be in good hands. It has been a real privilege and pleasure to work with all of you, colleagues and friends, since 1995, and I know that the Institute will continue to move from strength to strength over the coming years. For my part, I will continue my work for biomedical research, clinical care and public health here in Victoria and Australia in the future.

Professor Bob Williamson FRS FAA Director

12 ^ ANNUAL REPORT 2003

OUR SUPPORTERS Generous contributions from our many donors and supporters in 2003 fostered innovative research in exciting new areas of child health and genetic research. Our donation income increased by 20 percent from the previous year, totalling more than $3.4 million. We work ■ 't!'

closely with the Royal Children's Hospital Foundation and the Good Friday Appeal to ensure donations go towards the best research to help Victoria's children. In 2003, less lU

than one percent of total expenditure was spent on fundraising and development.

D h-

GOVERNMENT DEPARTMENTS

The Federal Government awarded tive fellowships and 15 project grants for research commencing in 2004, totalling $5.18 million, through the National Health and Medical Research Council (NHMRC). The institute also received funding from the Victorian Government through the Departments of Innovation & Regional Development, Human Services, Family and Community Services and VicHealth (see pages 81-88). CHARITABLE FOUNDATIONS

Our research was generously supported in 2003 by many charitable foundations, including the Jack Brockhoff Foundation, Ian Potter Foundation, Miller Foundation, Helen Macpherson Smith Trust, RE Ross Trust, Perpetual Trustees, ANZ Trusts, Telstra Foundation,

■Jr

«/>

u 0£

LLi lO UI

Beyondblue, Garnett Passe and Rodney Williams Memorial Foundation, and many others (see pages 8388).

a: (A

INTERNATIONAL COMPETITIVE FUNDING

111 Of

Competitively-won funding from international sources increased, with major support coming from the National Institutes of Health (USA), Wellcome Trust (UK), Friedreich Ataxia Research Association (USA), Juvenile Diabetes Foundation (USA) and Muscular Dystrophy Association (USA) (see pages 81-88).

a X

u X

o o

ESSENTIAL PARTNERSHIPS

THE MURDOCH FAMILY

We benefit from strong partnerships with the Royal Children's Hospital and the University of Melbourne. The support and shared vision of all three organisations enables us to conduct life-saving research and ensure the best possible outcomes for all children and their families. In 2003, thousands of generous Victorians supported the Good Friday Appeal, raising more than $9.8 million. These funds support the purchase of equipment at the Royal Children's Hospital and paediatric research at MCRI.

Our Patron, Dame Elisabeth Murdoch, and her family continued their outstanding personal and financial support of MCRI. Dame Elisabeth spoke at our Annual General Meeting in May, launched the Bruce Lefroy Centre in June, and met with staff at lunches and tours of MCRI.

Far left: Floyd Goedemoed in the Good Friday Appeal 2003. Above: Lachlan Murdoch and Sarah O'Hare; Left: Kem Mayberry and Robyn Reeves, from the Brockhoff Foundation. ANNUAL REPORT 2003 •

Janet Calvert-Jones and Judy Paterson served as Directors of the Board (see page five). And David and Karina Calvert-Jones served on the newly-formed Development Board with our ambassador, Sarah O'Hare (see page six). In November, Research Australia recognised Dame Elisabeth Murdoch and Sarah O'Hare for their outstanding contributions to health and medical research at the inaugural Thank You Day awards. Sarah received the Celebrity Advocacy Award and Lachlan Murdoch accepted Dame Elisabeth's Great Australian Philanthropy Award on her behalf. DEVELOPMENT BOARD

We established a Development Board In 2003 (see page six) to engage a new generation of supporters for MCRI. Members have wide-ranging professional backgrounds, including law, investment and finance, public relations and marketing. Great progress was made in 2003 in fulfilling the mission to 'friendraise' for MCRI. More than 300 new supporters and friends visited the Institute and/or attended special events. The Development Board also launched its major fundraising campaign, 'A Dollar a Day', which invites people to make an ongoing donation of one dollar a day, which is directly debited. OAKS DAY

Our ambassador Sarah O'Hare, Rove McManus and members of our Development Board hosted 150 guests in The Marquee on Crown Oaks Day at Flemington. This next generation of philanthropists This page: (1) Dr Narelle Curtis, Sarah O'Hare, Laurie Cox and Dr Mini Tang; (2) Rove McManus and Sarah O'Hare; (3) Aiex Lowen and Karina Calvert-Jones; (4) Tim O'Rourke and Fiona Edwards; (5) Sam Patterson and Patrick Upfoid; (6) Natalie Bloom and Brian Hamersfeld.

14 ^ ANNUAL REPORT 2003

made fundraising look easy as it raised more than $170,000, while enjoying the vibrant atmosphere of the spring racing carnival and a beautiful sunny day. We are grateful to the generous sponsors who supported this event (see page 89). CHR PARTY AT THE EDGE

RCH1000

RCH1000 is a fundraising program with a simple yet compelling aim - to have 1000 members pledging $1000 for vital child health research. A gala dinner at Crown Palladium in August gave 350 guests the opportunity to learn about some of our most cuttingedge research, and to sign up as members. Research

on new ventilation techniques for premature babies, drug trials for children with heart disease, genetic tests for deafness and adolescent mental health issues, were showcased at the dinner. Money raised by RCH1000 provided fellowships for three talented young researchers at MCRI.

350 supporters of the Centre for Hormone Research enjoyed a night of dancing and entertainment during a party at BMW Edge, Federation Square. An auction of exceptional items, generously donated by Melbourne businesses, helped raise more than $140,000 for research into childhood conditions such as diabetes, psoriasis, and disorders of growth and bone development (see page 45).

■11

D H

«/> Z X

u 0£

LAUNCH OF THE BRUCE LEFROY CENTRE

r P

Dame Elisabeth Murdoch launched the new Bruce Lefroy Centre for Genetic Health Research in June 2003. The new specialist centre, established with a generous donation from the Lefroy family, and many other supporters, will concentrate on genetic diseases such as Friedreich Ataxia and Tay Sachs disease (see page 42).

Z lU 0^

ISLAMIC COMMUNITY DONATION

I U

Victorian Muslims representing 64 different nationalities raised more than $170,000 towards the purchase of a phosphorimager - a state-of-the-art machine that will enable researchers to more efficiently study genetic changes in childhood cancers, cystic fibrosis and muscular dystrophy. The Islamic Community Auxiliary to the Royal Children's Hospital (ICARCH) raised this impressive amount at their inaugural fundraising dinner in November.

O a

oc 3

This page: (1) Sheik Fehmi El Imam with two-week-old Levi McCormack; (2) Judy and Rowly Paterson with their daughters Heien and Sarah; (3) Dame Eiisabeth Murdoch with (from ieft) Joan, Bruce, George, Fran and Marj Lefroy; (4) Bob Wiiliamson, Panos loannou and Sir James Gobbo with Carrie Beetham and Tamara Curran. ANNUAL REPORT 2003

BY PROFESSOR ANDY CHOO, ASSOCIATE DIRECTOR MCRI

but it soon became clear that his passion lay in clinical genetics.

David Danks passed in the middle of the Australian winter while the International Congress of Genetics was being held in his beautiful home city of Melbourne. A brief tribute was paid to him at the Congress, and his funeral and commemorative sen/ice were warmly attended by many whose lives David had touched.

This was in the early '60s, well before the discipline turned the corner to achieve the 'mainstream' status it presently enjoys. David recognised its importance then and ensured that he received training in the UK and the USA from the very best in the clinical genetics world, including Victor McKusick.

These modest events marking David's passing might have seemed to ill-befit a man of such towering stature in medicine, science, education and the wider community. David's contributions to all of these fields, however, speak volumes in their own right, and will continue to reverberate for many years to come.

OBITUARY David M Danks MD AO (June 4 1931 - July 8 2003) Founder, Murdoch Childrens Research Insfitufe

I first saw David in action when I attended his human genetics lectures at the University of Melbourne in the early '70s. He expected his students to be attentive, or risk being lost during exam time, since much of what he said would have been difficult to find in textbooks. As I learned later when I got to know David, his was truly an extraordinary mind and he possessed an exceptional memory. He was an enthusiastic and inspiring teacher, generous in giving encouragement and support, and good exam grades to those who made the effort. David graduated in Medicine at the University of Melbourne in 1954. He was Professor of Paediatrics at the Royal Children's Hospital in Melbourne for about eight years.

16 ^ ANNUAL REPORT 2003

David combined patient care, teaching and research on his return to Melbourne. Working with a small budget and research team, he soon made the critical connection between the kinky/steely hair in Menkes syndrome patients and that of lamb that grazed on grass grown in copper-depleted soil. David's hunch that copper deficiency might be the underlying cause of Menkes disease was quickly confirmed when he demonstrated abnormally low levels of copper in serum and unusually high levels of copper in gut tissue of Menkes patients. In a series of landmark papers published between 1972-73 in Lancet, Paediatrics and Science, David reported that Menkes was a disease of copper transport. A collaborative effort between his team and a team in the USA succeeded in identifying and cloning the Menkes gene just two years before his retirement. In all, David published more than 400 papers, reflecting his wideranging research interests, which covered diseases such as Wilson's, phenylketonuria, Marfan's and many others.

Knowing that it was impossible for any one clinician to know or remember all the features of the thousands of malformation syndromes, David laid down the principles of a computerised system with very extensive pictorial and verbal presentation of them. The POSSUM system (Pictures of Standard Syndromes and Unknown Malformations) was ready for commercial distribution in 1984, after more than 10 years' development. Today, POSSUM is used by countless hospitals throughout the world. Perhaps David's biggest challenge was his ambition and dream of building an institute combining the best of clinical genetic service and world-class genetic research. Despite David's many talents - a great intellect, business skills, good connections in the medical and genetics world, an inexhaustible amount of energy and discipline - the path to realising his dream was not easy. He set out at a time when government policy, hospital politics and low community awareness of genetics combined to create many hurdles and there were occasions when a lesser person would have given up. David did, of course, receive support from many people. One key person was Dame Elisabeth Murdoch, an untiring philanthropist and Patron and friend of the Institute to this day. She gave David unwavering encouragement and support. Other support also came from the business people (some of whom would later form the Board) and the medical and scientific fraternity. In 1986, his small research outfit formally became the Murdoch Institute, which David led as Founding Director until his retirement in 1995.

'h'

Under David's leadership I I the Murdoch Institute * became the premier centre for clinical genetics training in Australia and the AsiaPacific region. At the time of David's retirement, the Institute had grown to more than 200 staff and stood as one of the foremost genetics research

n j te

institutions in the world. Since combining with the Royal Children's Hospital Research Institute, and renaming accordingly, the Murdoch Childrens Research Institute employs more than 600 staff and has increased its breadth of research interest to include child and adolescent health. Today we bear full witness to, and continue to benefit from, the fruit of David's vision and labour of love. David's commitment and time were also generously given outside the Institute. He was a member of the school council of Camberwell Grammar School (for which he was both dux and school captain) for 21 years and the council's Chairman for the past five years. David gave his service, time, and financial support generously to the school, and helped to raise funds for many major projects at the school, including its auditorium, at which David's commemorative service was held. On retiring from the Murdoch Institute, David became Chairman of the publicly-listed company John Danks &

Son and, as a trustee of the Danks Trust, continued to serve the community through significant contributions to numerous charities. David's commitment and generosity to the community were unquestionable.

At Christmas time, David and his wife June gave presents to staff and warmly welcomed us to functions at their lovely homes. It was a treat to be welcomed into such a fine family and given the chance to know each of its wonderful members.

(/)

z u a

Sadly, David has now departed, but he leaves behind his remarkable and supportive wife June - in her own right a brilliant clinician who unselfishly curtailed her career in order to provide the best for the family and for their five wonderful children (Andrew, Philip, Jenny, Peter, and Alister). David will also be greatly missed by his 12 grandchildren.

UJ 1/1 UJ

Of </1

Z UJ

O X

By any measure, David's journey through life was immensely eventful and fulfilling. Indeed, it is quite incredible that one man could have achieved so much in so many areas. Such achievements, though, did not come without a lifetime of dedication, and courageous struggle with his own health.

u I

u O

David was a remarkable doctor, scientist, teacher, mentor, family man, friend, and champion of good causes. His immense vision, talent, energy, tenacity, unflinching appetite for excellence, and warm and caring nature, remain a shining inspiration to us all. To him, we owe heartfelt thanks for his contributions to making the world a better place. Rest well, David. Condensed from American Journal of Human Genetics 2003, volume 73, pages 981-985

ANNUAL REPORT 2003

MANAGEMENT REPORT To meet the demands of the expanded Institute, the Corporate Division, represented by Operations, Administration and Finance, grew to a staff of 47 in 2003, providing a professional service to the research groups and to Genetic Health Services Victoria. New team members were selected to add value to the division and to fit the needs of the Institute. Despite our expansion, total administration costs have remained less than six percent of total expenditure. FINANCIAL SERVICES

To ensure that our financial controls and the processes supporting them are robust and best practice for an institute of this magnitude, we commenced a review of internal control practices, with KPMG providing guidance. Neil Marker has been examining all financial policies and procedures for MCRI and Genetic Health Services Victoria. As a first step we established a revised Schedule of Delegations, which was approved by the Board in 2003.

STAFF & STUDENTS

than $170,000. Total donations increased by 20 percent to a total of $3.4 million.

900—, 800 _ 700 —

612 Total staff & students 549 Staff

600 — 500 _

414.73 EFT

400 — 300 — 200

63 Student

HUMAN RESOURCES & INDUSTRIAL RELATIONS

MCRI was proud to be named an 'Employer of Choice for Women' Imployer for 2003. This award was given T)F CHOICE • FOR WOMEN to only 114 Australian organisations of the nearly 3000 that are required to report to the Equal Opportunity for Women Agency (EOWA), and supports MCRI as it continues working towards offering an environment that provides all employees the opportunity to achieve their greatest potential. During the year, a number of new policies were rolled out to provide staff with clearly-established guidelines in their employment rights and responsibilities. = lOWA

Working with Mercer Human Resource Consulting and Mr Bob Lang (HR Consultant), a new Staff Performance Evaluation Program (PEP) was introduced to the Institute. The Program was completed in 18 ^ ANNUAL REPORT 2003

1999

T 2000

2001

2002

2003

YEAR

October and is now in operation throughout MCRI and GHSV. PEP has been developed to provide improved performance, career advice and direction to all our staff. Pre-probationary reviews were also implemented to allow staff and supervisors a smooth transition into their working relationship when new employees join the Institute. PUBLIC RELATIONS & COMMUNICATIONS

Initiating a long-term donor development strategy, we focused on engaging a new generation of supporters for MCRI. A Development Board was established to facilitate this, introducing more than 300 new contacts to MCRI at three tour evenings and at its inaugural fundraising event on Oaks Day, which raised more

We participated in the branding review of the RCH and continue to work towards a cohesive brand strategy for MCRI. We worked with the RCH foundation and centre development committees to collaborate on successful events like RCH 1000 and on new relationships, including the Islamic community. Media training sessions were provided to RCH and institute staff. Our media relations strategy was focused on mass news media coverage of adolescent health and community child health issues like obesity and behavioural disorders, as well as new genetic tests. We had seven major media campaigns and launches, and more than 200 media hits. We provided spokespersons on a range of child health and research Issues and Bob Williamson's comments appeared in 53 news stories. Ongoing issues management included newborn screening, storage of genetic information, genetic privacy and bioethics issues. We produced high-quality publications, including the annual report and tri-annual newsletter. We liaised with other health, medical and research advocacy organisations to make research a higher priority, and gathered industry intelligence to identify the issues relevant to our present and future operations.

GRANTS MANAGEMENT

RISK MANAGEMENT

The grants office had a busy and successful year reflected in the increased NHMRC project grant success rate, from 21 percent in 2002 to 33 percent in 2003, adding to overall NHMRC grants awarded totalling $7.7 million. We also successfully accessed overseas sources of funding, including several large grants from the USA-based National Institutes of Health, Muscular Dystrophy Association and Juvenile Diabetes Foundation.

Early in the year, we embarked on a program to review risk-management strategies, to ensure risks continue to be monitored and appropriately treated. Under the guidance of Risk Resources Pty Ltd, we commenced a 12-month program of interviews and workshops with staff from a range of areas, enabling us to analyse current and potential future risks. The risk-assessment and risk-management review has positioned MCRI to further develop existing strategies and to ensure a program of continuous improvement for robust risk-management frameworks for the future.

The mentor program was established, providing a valuable service to researchers with peer review their research grant applications. A grants office homepage was established on the MCRI intranet to provide important information to researchers on all elements of grant funding, including a Grants Calendar. Maria Salvatico joined Julia Malone to assist in providing sen/ice to the increasing number of researchers at MCRI.

GRANTS & DONATIONS

12-

1 v=>t

4 0 2000

Jj 2002

2001

YEAR

Donations (+$587, 568 from 2002) Grants (+$64,367 from 2002)

2003

D (/) Z

Several key IT initiatives were introduced to address issues that arose as a consequence of the Institute's expansion. New domain names provided an official and integrated email address system for MCRI and Genetic Health Services Victoria. An upgrade of MS Exchange 5.5 to Exchange 2003 was installed, aiming to increase the security, performance and stability of emailing, providing more effective communication between staff. In association with Women's and Children's Health, a virtual private network (VPN) was rolled out, enabling remote access to our network. BUILDING & SCIENTIFIC SERVICES

INFORMATION TECHNOLOGY

2016-

Our team completed construction and equipping of a new Animal facility, which was in operation in November. Under the management of Barry Holt, we began the process of providing additional PC2 laboratories and specialised facilities on the 10th floor. We also developed an online procurement system with the assistance of Jason Elliott from Information Technology. Early in 2003 MCRI established a Flow Cytometry facility, headed by facility manager Matthew Burton. The facility provides in-house services for research staff requiring detailed multi-parameter cell analysis, and houses a cell sorter, a FACSCalibur (on loan from Becton

0£

< Ul </)

Dickinson) and a recently purchased next generation high speed analyser - the LSR II. We plan to expand the facility through the purchase of a new highperformance sorter to replace the FACStar, and the purchase of a new confocal microscopy system scheduled for 2004. We expect the facility to be relocated upon completion of the new research building.

Z 111

cc Q

X U I U

OCCUPATIONAL HEALTH & SAFETY

The Occupational Health & Safety staff and committee monitored adverse incidents. The Institutional Biosafety Committee (IBC) worked hard to ensure MCRI adheres to the Gene Technology Act 2000. The legislation deals with matters relating to work with genetically modified organisms (GMOs). The IBC ensured that: the laboratories and animal facilities are at the required standard; the facilities are properly labelled; facility manuals are available; experiments involving GMOs are

O o 0£

Director, Operations Anne Cronin anne.cronin@mcri.edu.au ANNUAL REPORT 2003

correctly registered; the staff is aware of the legislation and that those dealing with GMOs are adequately trained by their supervisors. BIOINFORMATICS UNIT

During 2003 an institute database was established using a Linux server to store and analyse microarray data. Collaboration was strengthened with MCRI researchers

to direct bioinformatic analysis of laboratory data, An innovative computer program was further developed to assist in the identification of key elements regulating gene expression during embryo development. Our key role is to teach MCRI researchers how to access and utilise the latest bioinformatic tools.

INTERNAL COMMITTEES CAREER GRANT COMMITTEE

Chair - Professor Graham Brown GENDER EQUITY COMMITTEE

Chair - Danielle Irvine INFORMATION TECHNOLOGY COMMITTEE

Chair - George Teng a

Kathryn Bellion Human Resources Manager

Chair - Associate Professor Henrik Dahl

Dr Narelle Curtis Public Relations Manager

Chair - Professor John Bateman

Julia Malone Grants Officer

Ross McKenzie Operations & Logistics Officer

OCCUPATIONAL HEALTH & SAFETY

George Teng Information Technology Manager

PURCHASING & EVALUATION COMMITTEE

MAJOR RESEARCH EQUIPMENT COMMITTEE

MENTORING COMMITTEE

Jason Elliott Web Administrator

Barry Holt Building & Development Manager

Andrew Grimes Technical Sen/ices Manager

20 ^ ANNUAL REPORT 2003

INSTITUTIONAL BIOSAFETY COMMITTEE

Viren Abeyasinghe Finance Manager

Marisa Fielding OH&S Manager

Kylie Morrell Executive Assistant to Director

Debbie Zombolas Payroll Manager

Chair - Professor Graeme Barnes

Chair - Marisa Fielding

Chair - Ross McKenzie TRAINEE RESEARCH SCHOLARSHIPS COMMITTEE

Chair - Professor Geoff Tregear

</> Z I (J

COMMERCIALISATION & BIOTECHNOLOGY The Institute remained active in 2003, securing intellectual property rights, commercial investment and licensing and partnerships/collaborations for projects with commercial potential. We filed a total of eight national and international (PCT) patent applications, an increase of three applications (60 percent) from the previous year. During the year the Institute became a Joining Member of Bio21, a collaborative biotechnology project that brings together the research facilities in the Parkville precinct and Melbourne University to share internationally leading-edge facilities in biotechnology research. COMMERCIAL COLLABORATIONS

MCRI engaged Biocomm Services Pty Ltd, the Melbourne-based life sciences technology management and commercial development company, to identify potential investors for two of the Institute's commercial opportunities - the Hearing Loss Biochip, championed by Associate Professor Henrik Dahl, and the ADHD project, championed by Associate Professor Martin Delatycki. We expect to see the results of this venture in 2004.

MCRI continued to foster collaborations with the Victorian Infectious Diseases Reference Laboratory (VIDRL) and Prince of Wales Hospital on a project with significant commercial potential 'Toll-like receptors for diagnosis and therapy in chronic liver disease'. This technology, championed by Dr Kumar Visvanathan, serves as a diagnostic tool for viral infection and as a means of monitoring treatment programs. Several potential commercial partners have already shown interest in this project and discussions are expected to continue into 2004.

< UJ iA IIJ

i/)

Z UJ

NEW PATENT APPLICATIONS

• Two Australian and one international patent for methods relating to gene and stem cell therapy research (Chromosome Research Group, see page 33) • Three Australian patents relating to treatment of psoriasis (Dermal Therapeutics Group, see page 37 • An Australian patent for a method of diagnosis of infection and disease (Staph & Strep Research Group, see page 35) • An international patent relating to deafness and associated disorders (Gene Identification & Expression Research Group, see page 40)

Director, Operations Anne Cronin anne.cronin@mcri.edu.au ANNUAL REPORT 2003

Q X X

o o

a£

m .... i

. ..Jki^^. •. *J

■<

iis

youth. We have a particular interest in the influence of families and schools on the development of young people. This research has been the basis of new preventive programs working with families, schools and communities. ADOLESCENT HEALTH AND SOCIAL ENVIRONMENTS This program was established in 2003 to further develop practical interventions that work, particularly In educational settings. It will examine influences such as school connection and why it should be protective against psychosocial problems like substance abuse and depression. INTERNATIONAL YOUTH DEVELOPMENT STUDY

ADOLESCENT HEALTH Adolescence is a time of profound changes in health and wellbeing. Major aspects of adolescent health range from physical illness through to emotional problems and lifestyle.

24 ^ ANNUAL REPORT 2003

YOUNG OFFENDERS RISK AND PROTECTIVE FACTORS Death rates are higher in young offenders than in young people with any medical or psychiatric condition. These findings were published in the British Medical Journal and are being followed by a longitudinal study of the health and social adjustment of 500 young offenders. HIGHLIGHT OF THE YEAR •

Creation of the VicHealth Chair in adolescent health research

FUTURE OBJECTIVES

This study completed its second wave of data collection in the United States and in Australia. It demonstrates the differences that exist in the social development of young people in Victoria compared with Washington State.

• To implement new analysis strategies for data collections we currently hold

VICTORIAN ADOLESCENT HEALTH COHORT

MAJOR COLLABORATORS

This study completed Its 10-year follow-up of 2000 young Victorians who were assessed on eight occasions from the age of 14. It has already documented the development of addiction and eating disorders. The latest wave looks at the effect of adolescent health problems on the education and employment prospect of young adults, as well as marital and social adjustment and parenthood.

•

Social Development Research Group, University of Washington, USA

•

Institute of Psychiatry, University of London, UK

RESEARCH OVERVIEW Our research deals with those aspects of a young person's background, social context and lifestyle that might affect their health and development through the teens and early adulthood. Current projects focus on health problems like major depression, alcohol and substance use, chronic physical illness and eating disorders, and the health of socially-marginalised

a mental disorder. Early data suggests the program improves the mental health of this group.

• To ensure greater collaboration with other adolescent research groups to achieve national leadership

MAJOR SPONSORS •

• VicHealth •

PATS EVALUATION Paying Attention To Self (PATS) is a peer-support program for young people who have a parent with

Group Leaders Professor George Patton george.patton@rch.org.au

National Health and Medical Research Council

National Institute of Drug Addiction

• The Baker Foundation •

Beyondblue

Associate Professor Susan Sawyer susan.sawyer@rch.org.au

ANAESTHESIA & PAIN MANAGEMENT Almost 1 7,000 children undergo procedures under anaesthesia at the Royal Children's Hospital every year.

ALLIED HEALTH & NURSING Our research covers a diverse range of disciplines-nursing, speech pathology, occupational therapy, physiotherapy, music therapy, play therapy, psychology-each with its own focus and expertise but sharing the common goal of improving care for children and their families. STUTTERING RESEARCH We continued research into the causes of stuttering, focusing on genetics, electrophysiology, neuro-imaging of the brain and the onset and natural history of stuttering in children.

research outcomes •

Roslyn Boyd awarded an NHMRC Health Professional Fellowship

• Sheena Reilly and a national team awarded NIH funding of US$855,000 HIGHLIGHTS OF THE YEAR •

Linda Johnston appointed Professor of Neonatal Nursing

•

Sheena Reilly appointed Visiting Professor, Institute of Child Health, University College, London

We are committed to the identification of risks and the improvement of safety and quality of care of children before, during and after their operations. We assess traditional clinical outcomes as well as patient and parent views and the economic implications of our care. The results of this research are continually used to shape our practice.

MAJOR COLLABORATORS •

Royal Children's Hospital departments including Clinical Pharmacology, Surgery, Pharmacy, Psychology

• School of Public Health, University of Melbourne MAJOR SPONSORS •

National Health and Medical Research Council

HIGHLIGHTS OF THE YEAR

• Australian and New Zealand College of Anaesthetists

•

Developed and assessed the Care-By-Parent Unit

•

Royal Children's Hospital Executive Committee

• Assessed the depth of anaesthesia by the monitoring of brain activity

•

Helen MacPherson-Smith Trust

• Assessed new treatments to control pain in children following their operations •

Investigated the incidence of awareness under anaesthesia and its post-operative sequelae

• Vicki Anderson and Peter Anderson awarded NHMRC funding totalling $584,925

Group Leaders Professor Sheena Reilly s.reilly@latrobe.edu.au

Professor Linda Johnston linda.johnston@rch.org.au

Group Leaders Dr Chris Bolton chris.bolton@rch.org.au Dr Andrew Davidson andrew.davidson@rch.org.au ANNUAL REPORT 2003

mm ..

ARTHRITIS RESEARCH Childhood arthritis affects four in every thousand children aged 2-1 6 years. There is no cure and although remission is common, often children are left with restricted joint movement and growth defects due to steroid therapies or skeletal deformities. In arthritis, destructive enzymes degrade cartilage in the joints. We investigate cartilage destruction at the molecular level, focusing on the structural molecules that define the matrix, and the enzymes that destroy them. RESEARCH OVERVIEW

HIGHLIGHTS OF THE YEAR

FUTURE OBJECTIVES

Our goal is to understand the complex cell-tissue interactions that lead to arthritis, with an emphasis on enzymes in the MMP and ADAMTS families, what they degrade, and the effects of degradation products and enzyme activities on cellular function. We have investigated the regulation of MMP and ADAMTS enzymes, focusing on the carbohydrate keratan sulphate. We have mutated the structural molecule aggrecan in mice, making it resistant to either MMPs or ADAMTS enzymes. We have also mutated ADAMTS-4 and ADAMTS-5, making mice with constitutively inactive enzymes. These studies on cartilage destruction in arthritis will identify new and relevant target molecules or activities for the development of disease-modifying drugs.

•

• To analyse susceptibility of the aggrecan knock-in mice to experimental models of arthritis

Christopher Little awarded an Arthritis Foundation of Australia Fellowship

• Christopher Poon awarded an Arthritis Foundation of Australia Scholarship

• To analyse susceptibility of the ADAMTS knock out mice to experimental models of arthritis

•

• To develop type II collagen knock-in mice

•

Initiated a project investigating functional knock out mice with deficiencies in two key ADAMTS enzymes important for cartilage pathology Invited to speak at specialist international meetings in USA, Switzerland and UK

RESEARCH OUTCOMES •

Identified distinct differences in the patterns of glycosylation on susceptible regions of aggrecan that may influence proteolysis

• Completed a full phenotypic analysis of knock-in mice resistant to MMP and ADAMTS enzymes • Completed pilot studies in four in vivo models of mouse arthritis

26 ^ ANNUAL REPORT 2003

MAJOR COLLABORATORS •

University of South Florida, Tampa, USA

•

Shriners Hospital for Children, Portland and Tampa, USA

•

Shriners Hospital for Children, Montreal, Canada

•

Rush St Lukes Medical Centre, Chicago, USA

• Walter and Eliza Hall Institute •

Monash Medical Centre

Group Leader Dr Amanda Fosang amanda.fosang@mcri.edu.au

I ASTHMA, ALLERGY & IMMUNE DISORDERS Allergic diseases such as asthma, eczema and food allergy are

major health problems in childhood, affecting approximately one in three Australian children. Our research examines immune and environmental abnormalities that lead to allergic disease. Our goal is to improve treatment and prevent disease onset.

ASTHMA STUDIES

VACCINE STUDIES

We examined immunological mechanisms leading to, and novel treatment strategies for, airway inflammation and remodelling in asthma. Studies included the role of the hormone relaxin in the development of airway fibrosis and progression of airway remodelling; and the role of inflammation in the development of airway remodelling and steroid resistance in asthma.

Immunogenicity of various pneumococcal vaccination schedules was examined using quantitative and functional assays.

PREVENTION OF ALLERGIC DISEASES

BEHAVIOURAL GENETICS

We examine the association between genes and mental health

We focused on identifying early-life risk factors for the development of allergic disease. Prenatal influences on immune function at birth were examined.

RESEARCH OVERVIEW

Ralf Heine undertook sabbatical in Berlin to study gastrointestinal food allergy and patch testing

0£

in a population of more than 2000 young Victorians. This enables • Joanne Smart awarded her PhD examining cytokines in allergic disease

•

Q. Ul

research into better 'personalised' therapies.

Robert Boyle and Adrian Lowe awarded PhD scholarships

problems such as substance dependence, depression and anxiety

HIGHLIGHTS OF THE YEAR

•

We use a candidate gene approachwe choose genes involved in reward signalling in the brain and examine how natural variation in these genes affects substance use, anxiety and depression.

•

HIGHLIGHTS OF THE YEAR •

Published data on the protective role of the tyrosine hydroxylase gene and nicotine dependence in two independent studies

•

Examined the role of DRD4, CHRM5, COMTand HTT in substance use, anxiety and depression

RESEARCH OUTCOMES •

Identified a number of genes that influence response to nicotine dependence, anxiety and depression in young Victorians

Screened novel candidate genes for variation and association with substance dependence

FUTURE OBJECTIVES • To further investigate genes that influence tobacco, cannabis and alcohol dependence Group Leaders Associate Professor Mimi Tang mimi.tang@wch.org.au

Dr David Hill allergy.clinic@rch.org.au

Group Leader Dr Richard Anney ric.anney@mcri.edu.au ANNUAL REPORT 2003

t/)

CANCER BIOLOGY, THERAPIES & TRIALS We are identifying genes that contribute to cancer development or resistance to treatment by regulating cell growth, survival and death. Cell therapy methods aimed at helping the child's immune system to fight off cancer cells and improve recovery from therapy are being developed. New diagnostic tests to detect tumour cells following treatment are also being pursued. CANCER VACCINE TESTING We examined the feasibility of dendritic cell-based immunotherapy for children with cancer. Dendritic cells direct immune cells to eliminate foreign or dangerous cells. In this clinical trial we manipulated dendritic cells to stimulate an immune response against cancer cells. CELL SUICIDE Controlled cell suicide normally eliminates precancerous cells. Anti-cancer therapies trigger this selfdestruction to kill tumour cells, so defective cell suicide responses can contribute to cancer development and resistance to treatment. We characterised molecules that regulate cell death.

RESEARCH OUTCOMES • Completed trial of tumour-derived dendritic cell vaccine • Determined glioma cell responses to anti-cancer treatments

• Developed molecular diagnostic tests for cancer FUTURE OBJECTIVES • To characterise molecular mechanisms affecting the utility of novel treatments for glioma • To identify new ways to predict a successful outcome following cord blood transplantation • To characterise genes that may cause leukaemia

• Commonwealth and State Governments

• To examine baseline immune function in children with cancer

• Inner Wheel Foundation

We established 10 new tests to facilitate diagnostic and prognostic testing for paediatric cancer.

MAJOR SPONSORS • National Health and Medical Research Council

• Leukaemia Auxiliary of the Royal Children's Hospital

STEM CELL BIOLOGY

• Australian Research Council

• Leukaemia Research Fund

The major limitation to the use of umbilical cord blood is the low number of stem cells available. We have investigated ways to increase the number of stem cells in culture and also an approach to predict which cord blood units are best for transplant. Furthermore, we have investigated a gene important in leukaemia and blood cell development.

• Pediatric Brain Tumor Foundation USA

• Bluey Day Foundation

MOLECULAR ONCOLOGY

28 ^ ANNUAL REPORT 2003

Group Leaders Associate Professor David Ashley david.ashley@rch.org.au

• Cancer In Kids Auxiliary

Dr Christine Hawkins chris.hawkins@mcri.edu.au Dr Ngaire Elwood ngaire.elwood® mcri.edu.au Dr Elizabeth Algar elizabeth.algar@rch.org.au

I CANCER GENOMICS

We use sophisticated molecular biology and tissue-viewing techniques to look at the normal and abnormal activity of many thousands of genes at the same time, to work out what causes cancer, heart disease and brain diseases. This knowledge results in faster diagnosis and better treatment. RESEARCH OVERVIEW

The key drivers to a range ot disease states are identified through the use of array-based and in-situ biology technologies. These include gene expression analysis, array-based CGH, in-house bioinformatics, high capacity data-visualisation packages and highthroughput molecular pathology. The resultant profile of disease not only provides a selection of genes implicated in the disease but also candidate drug targets and novel diagnostic markers. Our approach to disease analysis also yields in-depth knowledge of the fundamental drivers of disease development.

and without a history of the disease, to discern those children most at risk.

CAUSES OF RHEUMATIC HEART DISEASE We aim to identify the reasons for the high incidence of rheumatic heart disease in Aboriginal children. With the close involvement of Northern Territory Aboriginal communities, we have tested people with

Group Leader Associate Professor Deon Venter deon.venter@mcri.edu.au

0£

RESEARCH OUTCOMES •

O. lU

Utilised array CGH from archival tissue samples to identify novel genes associated with cancers

•

Profiled gene expression in immune cells of people with and without rheumatic heart disease

•

Genotyped multiple children who have developed paracetamol toxicity

•

Established potential roles in CNS development for a range of proteins which are potential targets for new therapies for neuropsychiatric disorders

IDENTIFYING NEW GENES We have identified several novel genes involved in the development of reproductive tissue cancers, which may be diagnostic and therapeutic targets. We have also identified as yet unexpected roles for a range of neuropsychiatric disorders, including depression and schizophrenia.

(/)

u a

< lU iA lU

HIGHLIGHTS OF THE YEAR •

Developed integrated database for evaluation of multiple sources of genomic information

•

Identified novel candidate tumour suppressor genes in cancer

MAJOR COLLABORATORS •

Royal Children's Hospital departments including International Child Health and Microbiology

5*1

• Victorian Breast Cancer Research Consortium •

University of Melbourne

•

Menzies Research Institute, Tasmania

MAJOR SPONSOR

•

Erasmus Medical Center, Netherlands

• Johnson & Johnson Pharmaceutical R&D

•

Cancer Research Initiatives Foundation, Malaysia

•

IBM

ANNUAL REPORT 2003 ^ 29

that is needed by all tissues for energy generation and the metabolism of iron. Our research aims to develop drugs to increase the level of frataxin to therapeutic levels in all tissues. LIVER AND METABOLIC DISEASES Methyl malonic aciduria is among a large number of metabolic diseases with life-threatening complications early in life. Our research aims to develop gene therapy using the patient's own stem cells. RESEARCH OUTCOMES

CELL & GENE THERAPY

•

Created mice with 100% production of human a-globin, p-globin, frataxin and mutase from the intact human genes

•

Conducted high throughput screening using genomic reporter assays for foetal haemoglobin and frataxin

•

Created thalassaemic mice for HbE and other common thalassaemia mutations

•

Created the first knockout mouse model for methylmalonic aciduria

Our group is developing novel therapies for common genetic diseases based on the delivery of genes into stem cells, or the targeted pharmacological modification of gene

MAJOR COLLABORATORS

expression, using the latest knowledge and resources from the Human Genome Project.

• Thalassaemia Research Centre, Bangkok, Thailand

RESEARCH OVERVIEW

THALASSAEMIA

We are developing new therapies for thalassaemia, Friedreich ataxia and methyl malonic aciduria, as models for haematological, neurological and metabolic diseases respectively. Genomic reporter assays, which we developed, can identify drugs that modify gene expression in a therapeutically relevant manner, while humanised mouse models of disease can be used to test gene therapy and drug therapies, thus greatly reducing the time for the development of novel therapies.

About 300,000 children are born every year with various haemoglobin abnormalities, but most of them die by the age of 10, due to lack of effective therapy. One objective of our research is to stimulate pharmacologically the production of foetal haemoglobin, to compensate for the defective production of adult haemoglobin.

30 H ANNUAL REPORT 2003

•

L'Hopital Robert Debre, Paris, France

•

University of Vienna, Austria

MAJOR SPONSORS •

Muscular Dystrophy Association USA

•

Friedreich Ataxia Research Alliance USA

•

Cooley's Anemia Foundation USA

• The Brockhoff Foundation

FRIEDREICH ATAXIA Friedreich ataxia is a severe neurological disease caused by a reduced production of frataxin, a protein

Group Leader Associate Professor Panes loannou panos.ioannou@mcri.edu.au

CELL & MATRIX BIOLOGY

our understanding of cartilage and bone development and the arthritic disease process.

Our studies are directed at defining biochemical and developmental pathways so that new diagnostic and clinical treatments can be developed to improve the quality of life of children affected by debilitating musculoskeletal diseases.

NOVEL EXTRACELLULAR MATRIX PROTEINS Using bioinformatics, we have identified several novel extracellular matrix molecules, which we are studying in detail to determine structure and function in development and disease.

RESEARCH OVERVIEW The extracellular matrix of musculoskeletal tissues is an intricate network providing structural scaffolding and regulatory signals tor growth and development. We aim to understand the regulation, structure, function and degradation of these complex matrices. Studies on collagen diseases have defined many mutations leading to brittle bone disease (osteogenesis imperfecta), cartilage disease (chondrodysplasias) and muscle disease (muscular dystrophies). Our studies utilise proteomic and genomic expression profiling to study cartilage and bone development and the molecular genetics of inherited developmental diseases of the skeleton.

RESEARCH OUTCOMES -

m %

•

Identified a new cartilage protein involved in inherited cartilage disease and arthritis

•

Characterised mutations and disease mechanisms in several inherited musculoskeletal diseases

•

Identified new mechanisms of RNA surveillance, of importance in understanding the basis of human genetic diseases

Z Ti

'U;

HIGHLIGHTS OF THE YEAR • Awarded two new three-year NHMRC project grants ‘

•

INHERITED MUSCLE DISEASE 1

Shireen Lamande invited to speak at conferences in USA and Japan

We focus on defining mutations in collagen genes that cause muscular dystrophy and determining the functional consequences of these mutations on muscle extracellular matrix. Improving our understanding of the disease process will allow accurate molecular diagnosis and counselling.

development and a platform for development of cartilage and bone biomaterlals for improved tissue regeneration.

CARTILAGE GENE EXPRESSION PROFILING

INHERITED SKELETAL DISORDERS

MAJOR COLLABORATORS

We have used gene linkage techniques to map the gene that causes an inherited form of arthritis affecting the hands and feet. Genes in the linked chromosomal region are being sequenced to identify the disease gene and the precise mutation. These studies will advance

•

Lund University, Sweden

•

LifeCell Corporation, New Jersey, USA

Our studies will combine two new approachesproteln identification by proteomic analysis and mRNA profiling by microarray analysis - to study the details of gene and protein expression in developing cartilage. This will provide insights into the regulation of cartilage

Group Leaders Professor John Bateman john.bateman@mcri.edu.au

:# \ *

Dr Shireen Lamande shireen.lamande@mcri.edu.au Dr Jamie Fitzgeraid j.fitzgerald@mcri.edu.au

.11

• John Bateman invited as session chair and speaker at several international meetings including the Gordon Research Conference USA • John Bateman elected to President, International Society for Matrix Biology

•

University of Manchester, UK

•

University of Sydney

•

University of Hong Kong

MAJOR SPONSORS •

National Health and Medical Research Council

• Australian Research Council

ANNUAL REPORT 2003

il'

CHILD DEVELOPMENT CLINICAL TRIALS & REHABILITATION

We perform high quality, timely, clinical diagnosis in children, complying with local and international good clinical practice

Our commitrnent is to children with disabilities such as cerebral

guidelines. We collaborate on numerous clinical drug trials,

palsy, spina bifida, the autism spectrum disorders and intellectual

including phase I to phase IV studies, single-centre and

disability. Our ultimate goal is to learn more about the causes of

international multi-centre trials and a number of pharmacokinetic,

disability and to improve treatment methods. This will ensure that

bioequivalence and pharmacodynamic studies. We facilitate the

the best possible outcomes are achieved for children with

quality use of medicines in children.

' disabilities and their families. RESEARCH OUTCOMES

HIGHLIGHTS OF THE YEAR

•

Identified that mutations that predispose carriers to thromboembolism are more prevalent in mothers of children with cerebral palsy, and in the children themselves, than in the general population

•

Found orthodontic appliances are useful for saliva control in some children with disabilities

•

Presented five papers at international meetings

•

Establishment of the National Cerebral Palsy Register

•

Identified that the provision of home-based as well as centrebased early intervention programs appears beneficial for children and families

Continued to gather data on more than 3000 children and young adults for the Victorian Cerebral Palsy Register

• Awarded Buckland Foundation grant for the Victorian Cerebral Palsy Surveillance Program

CLINICAL TRIAL SERVICE

HIGHLIGHTS OF THE YEAR

Provides personnel who are highly experienced in ail aspects of:

•

• All issues relating to good clinical practice (GCP)

• A total of 19 clinical drug trials were completed, commenced or in the pipeline

•

CRF management

MAJOR COLLABORATORS

•

GCP staff training

•

Subject recruitment

Royal Children's Hospital departments including Allergy, Community Child Health, Complementary and Alternative Medicine, Endocrinology, Gastroenterology, Immigrant Health, Infectious Diseases, Metabolic Diseases, Pain Management and Psychiatry

•

Quintiles Pty Ltd

Phase I to phase IV trials

OTHER SERVICES • Clinical pharmacology, research and development

FUTURE OBJECTIVES

•

Clinical trial design

• To develop new strategies for the prevention of cerebral palsy

•

GCP compliance

•

In-patient facilities

• To evaluate a range of treatments in the areas of spasticity, saliva control and family wellbeing

•

Pharmacokinetic/pharmacodynamic modelling

•

Protocol development

•

Regulatory affairs strategy

Group Leader Associate Professor Dinah Reddihough dinah.reddihough@rch.org.au 32 ^ ANNUAL REPORT 2003

Formed scientific alliance agreement with Quintiles Pty Ltd

Group Leader Associate Professor Noel Cranswick noel.cranswick@rch.org.au

artificial chromosomes. These artificial chromosomes will facilitate the study of centromere and chromosome structure and function, as well as potentially provide a new gene therapy system for transferring healthy genes Into patients. IMPROVED MOLECULAR CYTOGENETIC DIAGNOSTIC TOOLS

CHROMOSOME RESEARCH Chromosomes are fhe vehicles that carry our genes. Changes in chromosome numbers often lead to birth defects and cancer. We study how cells maintain correct chromosome numbers, and develop new tools for testing and correcting chromosome and genetic defects. RESEARCH OVERVIEW

Current protocols for the clinical detection of cytogenetic abnormalities are costly, laborious, and inapplicable to submicroscopic defects. We are developing new protocols utilising cutting-edge molecular technologies, and testing these protocols at the proof of concept and proof of practice levels to efficiently bring them to the marketplace.

Neocentromeres are a new class of functionally normal centromere first discovered in our laboratory. They are formed on chromosome arms and lack the repetitive DNA that typifies the normal centromeres. We are capitalising on the fully known sequences of neocentromeres to use them as a model system to study the structural and functional properties of the human centromeres.

CENTROMERE STRUCTURE AND FUNCTION

HUMAN ARTIFICIAL CHROMOSOMES

The centromere Is a highly complex structure consisting of DNA and a plethora of proteins. Relatively little is known about how centromere DNA and proteins are assembled, and what the functions of the different protein components are. This project aims to identify new centromere-binding proteins, investigate the roles of new and existing proteins, and determine their spatial

Human artificial chromosomes are engineered mini chromosomes that function like normal chromosomes within a cell. Our laboratory has engineered a series of

0£

O a. ui 0^

u Of

< UJ

RESEARCH OUTCOMES •

Identified six new centromere-binding proteins

•

Discovered the transcriptional competence of centromeric chromatin

•

Produced chimeric mice carrying our human artificial chromosomes

•

Obtained proof of concepts for new tests for trisomies and Charcot-Marie-Tooth disease

organisation within the centromere and the nucleus.

Our genes are contained within 23 pairs of chromosomes in every cell. As cells divide, all the chromosomes make a new copy of themselves and each set segregates equally between the daughter cells. A key structure that presides over how chromosomes divide is the 'centromere'. We study how the centromere performs its role. Related research includes the development of new diagnostic tools for detecting chromosomal defects, and the construction of human artificial chromosomes for gene therapy applications.

HUMAN NEOCENTROMERES

HIGHLIGHTS OF THE YEAR • Awarded NHMRC and NIH grants totalling $2.5 million •

Richard Saffery was awarded the NHMRC RD Wright Fellowship

•

Published 10 primary research and invited papers in major journals

MAJOR SPONSORS • National Health and Medical Research Council • National Institutes of Health (USA) • Ausindustry

Group Leader Professor Andy Choo andy.choo@mcri.edu.au ANNUAL REPORT 2003

CLINICAL EPIDEMIOLOGY & BIOSTATISTICS We primarily assist other researchers on research methods and biostatistical analysis, including an active program of education and training. We also conduct public health and clinical research on the prevention and management of ill health among children and adolescents. RESEARCH OVERVIEW In 2003 we continued a wide range of projects with local, national and international collaborators. Research included statistical methodology for dealing with missing data in large epidemiological studies; diagnosis of severe illness in neonates; immigrant health services in Victoria; and the role of modifiable factors in pregnancy as determinants of later health and development. Other major themes related to vaccine-preventable diseases and community-based vaccine trials.

papillomavirus; a new combined Hib-Meningococcal serogroup CY conjugate vaccine; options for diphtheria-tetanus-pertussis vaccination at 18 months of age; and the persistence of antibodies following receipt of a combined hepatitis A/hepatitis B vaccine. We also conducted a community-based cohort study of the epidemiology of respiratory viruses in Melbourne children and their families. HIGHLIGHTS OF THE YEAR •

VACCINE AND IMMUNISATION RESEARCH We conducted four/community-based clinical trials designed to evaluate: a new vaccine for human 34 ^ ANNUAL REPORT 2003

• World Health Organization •

Royal Women's Hospital, Mercy Hospital for Women, Geelong Hospital

•

Department of Physiology, Monash University

FUTURE OBJECTIVES

•

Menzies Research Institute

• To establish a large new study of modifiable factors in pregnancy and offspring health

•

Department of History and Philosophy of Science, University of Melbourne

• To establish a larger cohort of twins studied during pregnancy, with the Australian Twin Registry

MAJOR SPONSORS •

MAJOR COLLABORATORS

• VicHealth

•

National Health and Medical Research Council'

•

GlaxoSmithKline, Merck & Co, Medimmune

EARLY DETERMINANTS OF HEALTH There is increasing evidence that maternal nutrition, health and lifestyle during pregnancy can affect children's physical and mental health, and intellectual performance, for the rest of their life. We have large, longitudinal studies nearing completion, examining: maternal iron supplementation and child neuro development; vitamin D in pregnancy and child growth and blood pressure; and factors influencing birth size and cause'of ddath, in a historical cohort (1857-1900). We have a major focus on twins, because study of twin pregnancies can help us unravel the role of shared versus individual factors in the observed association between size at birth and risk factors for cardiovascular disease.

Ruth Morley convened international meeting in USA on twins and the fetal origins of adult health

•

Stephen Lambert was seconded to WHO during the international outbreak of SARS

School of Population Health, University of Melbourne

Group Leaders Professor John Carlin jbcarlin@unimelb.edu.au

Department of Human Services

Professor Terry Nolan t.nolan@uninnelb.edu.au Dr Ruth Morley morleyr@unimelb.edu.au

HIGHLIGHTS OF THE YEAR

COMMUNITY CHILD HEALTH We research common concerns and condifions fhaf affecf hundreds of fhousands of

• Awarded two NHMRC grants, a career development award and major Federal government grants

Australian children, including weight, sleep, injury, social and emotional health,

•

Frank Oberklaid, Jillian Sewell and Elizabeth Waters appointed to NHMRC committees

•

Four staff awarded a PhD or DPsych

behaviour, oral health, language, and hearing problems. We also research ways to improve the health and wellbeing of all children. RESEARCH OVERVIEW We conduct research into problems that affect most Australian families at some point in their lives. In addition to causing immediate stress and consuming professional resources, these issues may have a long term negative impact on the child's developmental trajectory, leading to problems in adolescence and adult life. A life course perspective predicates a focus on health promotion, prevention, early detection and early intervention - this is the main focus of our research. HEARING IN SCHOOLS STUDY (HISS) We visited 80 Melbourne primary schools and tested the hearing of nearly 6000 children. Nearly one percent were found to have slight or mild hearing loss in both ears, lower than suggested by international studies. In 2004 HISS will examine impacts and genetics of slight and mild hearing loss.

FUTURE OBJECTIVES CHILDHOOD UNINTENTIONAL POISONING This project examined the views of stakeholders and parents of young children, identifying that parental uptake of safety practices is vulnerable to changes in the home environment. Young children rely on parental awareness of risk and safety behaviours, which is increased by personal or vicarious exposure to a poisoning.

This trial broke new ground in terms of how general practitioners can tackle management of overweight children in a strict research paradigm. All participating GPs and 93 percent of our families completed the six-month follow up. 30 percent of all children attending GPs were overweight or obese.

i/j

• To strengthen childhood obesity epidemiological and intervention research • To study the impact of hearing loss in adolescence

o. UJ Of

I U

• To collaborate with TVW Telethon Institute on Early Development Index Research

111 I/) lU Of

MAJOR COLLABORATORS

In partnership with major global health organisations, we examined 400 published reviews against global health concerns to identify 26 priorities for systematic review. This will drive a user-needs approach to systematic reviews of research literature, which has not been previously employed.

•

RESEARCH OUTCOMES

• VicHealth

•

Conducted translational research, impacting on policy and professional practice

•

National Institutes of Health, USA

•

National Health and Medical Research Council

•

Developed professional development programs for GPs, nurses, and paediatricians

•

Department of Human Services (Victoria)

•

Produced 36 peer-reviewed publications

Department of Family and Community Services (Federal)

Maternal and Child Health Services

• General Practitioners • Australian Hearing Services • Accident Research Centre, Monash University MAJOR SPONSORS

• Australian Research Alliance for Children and Youth

Group Leaders Professor Frank Oberklaid frank.oberklaid@rch.org.au

• To conduct health services research with evaluation of new service models

COCHRANE HEALTH PROMOTION RESEARCH

LEAP (LIVE, EAT AND PLAY)

Associate Professor Elizabeth Waters elizabeth.water5@rch.org.au Associate Professor Melissa Wake melissa.wake@rch.org.au ANNUAL REPORT 2003

CORD BLOOD BANK

lg jtBp fmk -s-sii. 's :!.,;.J',.

We collect and store blood units from babies' umbilical cords for transplantation to children with cancer. We currently have more than 3807 banked cord blood units. We are part of an international network, receiving regular requests from overseas transplant centres. RESEARCH OUTCOMES • Banked 962 cord blood units, showing yearly 'production' is still increasing • Provided blood for eight transplant patients, bringing the total of cord blood units provided to 31 patients HIGHLIGHTS OF THE YEAR • Ngaire Elwood received funding for developing strategies to improve cord blood transplants FUTURE OBJECTIVES • To collect 7000 cord blood units to increase chance of finding a suitable matches for patients • To receive regular contributions from groups in Perth, Adelaide and Hobart MAJOR SPONSORS • Bone Marrow Donor Institute Ltd • Inner Wheel Foundation • Lions Cord Blood Foundation

Group Leader Dr Simon Bol simon.bol@rch.org.au 36 ^ ANNUAL REPORT 2003

CRANIOFACIAL SCIENCES We research the causes, treatments and consequences of inherited and acquired disorders of the face. The Craniofacial Sciences Consortium is comprised of scientists, clinicians and public health researchers working to improve the lives of children and families affected by these conditions. RESEARCH OVERVIEW To improve understanding and treatment of conditions affecting the face, we research the genetic causes of craniofacial malformation; embryonic and fetal development of craniofacial structures; and dental, psychological, speech and surgical outcomes. We have characterised neuropsychological outcomes and growth of children with craniofacial anomalies. HIGHLIGHTS OF THE YEAR • Visitors from Great Ormond Street Hospital (London, UK), Children's Hospital (Los Angeles, USA) • Awarded Smiletrain Cleft Research Foundation USA and NHMRC grants • Staff appointed to Department of Plastic and Maxillofacial Surgery, RCH

FUTURE OBJECTIVES • To investigate tissue engineering for craniofacial repair, genetic control of craniofacial development, the impact of clefting on general development and speech, and mothers' reactions to having a baby with cleft lip or palate MAJOR COLLABORATORS • Monash, La Trobe and Melbourne Universities • Biomaterials Science Research Unit, University of Sydney • Royal Children's Hospital departments

Group Leader Associate Professor Nicky Kilpatrick nicky@bassdata.com.au

DERMAL THERAPEUTICS When looking at someone's skin you see the epidermis. We study epidermal as

responses to stress like UV radiation, and how the epidermis renews itself to maintain healthy skin. We are also developing a new skin therapy for the common skin disease, psoriasis, with our partner Antisense Therapeutics Ltd. RESEARCH OVERVIEW A complex network of growth factors, or cytokines controls skin growth. In the epidermis a particularly potent cytokine is insulin-like growth factor-1 (IGF-I). We studied and manipulated the epidermal IGF-I response system, because it is important in normal epidermal homeostasis and altered conditions like UV damage, wound healing and skin cancer. We advanced development of a powerful antisense inhibitor of IGF-I action for use in psoriasis, optimised it for use in humans and renamed it ATL1101.

DISEASE MODELS

to 0£

O Q. 111

We specialise in generating and

a£

characterising transgenic mice that

I U

have precise genetic mutations.

These mice are an important

111 V) 111 Of

resource to scientists studying: • Asthma and allergic airway disease • Arthritis and osteogenesis imperfecta

RESEARCH OUTCOMES •

t • •

Discovered the epidermal specific expression of IGF binding protein-3 (IGFBP-3) and assigned a biological function to this observation Discovered that different proteolytic forms of IGFBP-3 may modulate the epidermal UV response Demonstrated that topical ATL1101 can penetrate human psoriasis skin biopsies and silence the IGF-I receptor gene

HIGHLIGHTS OF THE YEAR •

Presented at the 5th International Workshop of IGFBPs, Stockholm, Sweden

• Applied for a provisional patent based on current research

Group Leader Dr Christopher Wraight christopher.wraight@mcri.edu.au

• Stephanie Edmondson's review was front cover article in the prestigious journal Endocrine Reviews

•

Central nervous system development

•

Chromosome division

•

DiGeorge syndrome

•

Friedreich ataxia

•

Flypoglycaemia

• Antisense Therapeutics announced plans for a 'human proof of concept' study in psoriasis patients and awarded $1.1 million grant to develop ATL1101

•

Mitochondrial disorders

•

Methyl malonic aciduria

•

Pituitary development

FUTURE OBJECTIVES

•

Psoriasis

• To clarify the molecular mechanisms of IGFBP-3 action in the epidermis

• Testis development

MAJOR COLLABORATORS

• Wilson's disease

•

University of Manitoba, Canada

•

Peter Mac Cancer Centre

•

Isis Pharmaceuticals Inc, California, USA

•

CSIRO Health Sciences & Nutrition

• Thalassemia

Group Leader Dr Kerry Fowler kerry.fowler@mcri.edu.au ANNUAL REPORT 2003

■t

ENTERIC VIRUSES Viral gastroenteritis kills more than two million children worldwide each year. We track the changing strains of viruses to ensure that vaccines being developed, by our group and others, will be effective.

EMBRYOLOGY

RESEARCH OVERVIEW Our group collects and tests rotaviruses causing gastroenteritis in children across Australia. We are developing an oral rotavirus vaccine. We also conduct research Into gastrointestinal diseases that may have an infectious cause, and assess the importance of other viruses causing gastroenteritis.

Early embryos sculpt themselves into precise shapes. Sometimes they fail to form properly, resulting in birth defects. Our aim is to identify and understand the functions of these 'sculpting genes'. RESEARCH OVERVIEW

HIGHLIGHTS OF THE YEAR

The neural crest cell is one of the most important embryonic organ systems and is unusually prone to errors leading to birth defects. We investigate how the neural crest first appears, how neural crest cells migrate to form the face, and cell migration defects that lead to Hirschsprung's Disease.

•

Peter Farlie and Don Newgreen awarded NHMRC grant

•

Don Newgreen convened the Boden Conference on Epithelio-Mesenchymal Interactions

•

Peter Farlie invited to speak at the prestigious Gordon Conference USA

•

Sonja McKeown awarded the Toshiya Yamada Prize at COMBIO 2003

RESEARCH OUTCOMES • t;

Introduced new techniques to study the function of genes in neural crest development

•

Used time-lapse to analyse the dynamics of cells migrating to form the nervous system of the gut

•

Demonstrated that migrating nerve cells in real intestinal tissues are governed at group level, with stereotyped movement of migrating population but unpredictable movement of the individual cells

38 ^ ANNUAL REPORT 2003

MAJOR SPONSOR •

National Health and Medical Research Council

Group Leader Dr Don Newgreen don.newgreen@mcri.edu.au

RESEARCH OUTCOMES •

•

Documented significant changes in rotavirus strains including a new G9 virus which is not targeted by some vaccine candidates

• Awarded grants tor Crohn's disease research and to support national rotavirus surveillance FUTURE OBJECTIVES • To maintain appointment as reterence lab tor WHO and Asian Rotavirus Surveillance Network • To reinstate comprehensive National rotavirus sun/eillance • To identify infectious agents causing Crohn's disease • To develop and test improved RV3 rotavirus vaccine MAJOR COLLABORATORS

Improved rotavirus vaccine candidate RV3, and drafted manufacturing agreement with BioFarma

•

National Institutes of Health, USA

•

Centre for Disease Control

Commenced research into possible infectious causes of Crohn's disease

•

Baylor College, USA

•

University of Gadjah Mada, Indonesia

•

BioFarma, Indonesia

HIGHLIGHTS OF THE YEAR •

Invited to present at meetings in Cairns and Manila, Philippines

Group Leaders Professor Ruth Bishop r.bishop@mcri.edu.au

Professor Graeme Barnes graeme.barnes@rch.org.au Dr Carl Kirkwood carl.kirkwood@mcri.edu.au

hJ.

ETHICS

We undertake world-class research into ethical issues such as cloning, stem cells,

';i:i

reproductive ethics, pre-implantation genetic diagnosis and behavioural genetics. We are engaged in interdisciplinary research with clinicians, scientists and educationalists and promote public debate on controversial issues. ETHICS AND STEM CELLS

FUTURE OBJECTIVES

We examined ethical issues related to research and development in embryonic stem cells, cloning and adult stem cells.

• To expand Melbourne-Oxford Collaboration including joint UK-Australia appointments

DOES PRENATAL DIAGNOSIS DISCRIMINATE? We examined the question of whether prenatal testing, for conditions such as deafness and Down syndrome, results in discrimination against the disabled. There is a strong qualitative empirical research focus to this project.

(/) a O Q. LU

• To participate in the Melbourne-Oxford Stem Cell Collaboration Symposium 2004

• To increase public debate through media

< UJ

MAJOR COLLABORATORS

•

Oxford Uehiro Centre for Practical Ethics

lU Of

•

Centre for Medical Ethics, Oxford

'THE DEVIL'S OFFER'

•

Centre for Law and Genetics, Tasmania

This study examined the value of non-medical information (such as knowing the time of one's death or one's abilities) for wellbeing and autonomous decision-making. There is a strong philosophical base to this project.

• Australian Institute of Health Law and Ethics •

Centre for Applied Philosophy and Public Ethics, University of Melbourne

•

Centre for Human Bioethics, Monash University

•

Centre for the Study of Health and Society, University of Melbourne British Medical Journal

RESEARCH OUTCOMES •

Published more than 18 journal articles

•

Presented at national and international conferences

• Journal of Medical Ethics

MAJOR SPONSORS

•

Inten/iewed for more than 20 media stories

•

Universities of Kyoto and Tokyo, Japan

•

University of Manchester and EUROSTEM

• The Lion Fund

Mrs Anne Kantor

highlights of the year • Julian Savulescu attracted funding for the Oxford Uehiro Centre for Practical Ethics • Julian Savulescu edited special editions of Medical Ethics •

Journal

Merle Spriggs' PhD Autonomy and patients' decisions to be published

Group Leaders Professor Julian Savulescu

Professor Bob Williamson bob.williamson@mcri.edu.au

ANNUAL REPORT 2003

i 3’

GENE IDENTIFICATION & EXPRESSION

m. ll

Hearing loss affects one in 500 children. Our research is aimed at identifying the causes of deafness in children and adults. Hopefully this will lead to earlier detection, better management using existing treatment options, improved counselling for affected families and the development of new therapies. RESEARCH OVERVIEW

RESEARCH OUTCOMES

We mainly focus on the genetic aspects of hearing impairment in children and adults. This involves the development of new technology to rapidly investigate known 'deafness' genes and a search for novel 'deafness' genes in individuals and families affected by hearing loss. We are also using unique deaf mouse strains to identify novel genes involved in the hearing process. Finally, we are investigating the possibility of developing stem cell based therapies for hearing loss.

•

Published seven papers

•

One patent relating to novel ways of testing for genetic causes of deafness

•

Presented to international meetings, health care professionals and patient interest groups

IDENTIFICATION OF DEAF MOUSE STRAINS

• Awarded part of an NIFI funded study of mild hearing loss in school children

Mouse models have played an important role in the discovery of genes involved in hearing loss. Flowever, very few mouse mutants have been identified with recessive deafness - the most common mode of inherited hearing loss in humans. Using mutagenised mice bred specifically to identify recessive conditions, we identified five different strains with recessively inherited severe deafness.

HIGHLIGHTS OF THE YEAR • Awarded NHMRC project grant to investigate the genetic causes of deafness in mouse models

FUTURE OBJECTIVES • To develop cell-based therapies for all types of deafness • To improve detection, management and counselling for hearing loss MAJOR COLLABORATORS

TOWARDS CELL-BASED THERAPIES

• The Bionic Ear Institute

Hearing loss is associated with loss of essential cells in the cochlea. It is necessary to replace these cells if we want to restore nprmal hearing. We can differentiate mouse stem cells with high efficiency to become precursors to inner-ear cells, and successfully implanted these in guinea pig cochlea.

•

Royal Children's Hospital departments

•

New Children's Hospital, Sydney

40 ^ ANNUAL REPORT 2003

MAJOR SPONSORS •

National Health and Medical Research Council

• John and Janet Calvert-Jones • The Garnett Passe and Rodney Williams Memorial Foundation •

National Institutes of Health, USA

• Australian National University

■''.V

1 I ■.1.

Group Leader Associate Professor Henrik Dahl henrik.dahl@mcri.edu.au

EDUCATION PROGRAMS

GENETIC EDUCATION

• Genetics in the community; Tay Sachs disease CD-ROM

We provide genetics educational resources and programs tailored to meet the needs

•

of many different interest groups in the Australian community, including schools, health professionals, ethics committees and the general public.

HIGHLIGHTS OF THE YEAR •

RESEARCH OVERVIEW We are a multi-disciplinary team, with experts in genetic counselling, laboratory science and secondary, primary and tertiary education. Our research on community genetics and education programs enables us to tailor a variety of educational resources tor our target audiences. The educational resources we have produced include: brochures and booklets; kits containing worksheets for primary and secondary schools; CD-ROM teaching aids; interactive multimedia learning aids incorporating videos; a genetics resource folder for general practitioners and specialised workshops.

Organised the highly successful Human Genetics and Global Healthcare symposium for the XIX International Congress of Genetics

to Of

• Sylvia Metcalfe promoted to Associate Professor

o. lU

•

Minister Bronwyn Pike officially launched The Genetics File

I U Of

FUTURE OBJECTIVES

< 111

• To develop a comprehensive ethics and genetics education program for Victorian schools in collaboration with the Gene Technology Access Centre

to UJ Of

GENE CRC r

HAEMSCHOOL Genetic screening for hereditary haemochromatosis was used as a model program to survey the Victorian secondary school community for its attitudes and opinions toward school-based genetic susceptibility screening. The attitudes of Year 11 students, their parents and staff were favourable, provided there is an emphasis on effective education within the community. PRENATAL GENETIC COUNSELLING Pregnant women who are at increased risk of having a baby with a chromosome abnormality such as Down syndrome are usually referred for genetic counselling. A qualitative research approach examines genetic counselling process. Results indicate a wide variation in processes and individual experiences. This project will

The Genetics File resource and workshops for general practitioners

provide an ethical analysis of the goals of prenatal genetic counselling and an evidence-based framework for best practice.

Group Leaders Sylvia Metcalfe sylviaam@unimelb.edu.au

MCRI is a partner of the Gene CRC. Fiona Cunningham is the Director of the Gene CRC's ethics-based education program, designed to facilitate informed community discussion of issues surrounding genetic technologies and health. The Gene CRC was a key collaborator in the Public Participation Program of the XIX International Congress of Genetics, Melbourne 2003. In June 2004 the Gene CRC's operations will cease and MCRI is committed to ensuring the continuation of this education and ethics program, including vvvvw.genecrc.org. MAJOR SPONSORS •

Biotechnology Australia

•

Department of Human Services

MaryAnne Aitken maryanne.aitken@mcri.edu.au ANNUAL REPORT 2003

GENETIC HEALTH RESEARCH Our team aims to prevent disease and improve the health of individuals with a number of genetic disorders, including Friedreich ataxia, haemochromatosis, Huntington disease and Tay Sachs disease. The Bruce Lefroy Centre for Genetic Health Research was launched in 2003 to focus on diagnosis and treatment of neurogenetic diseases and research into community screening. FRIEDREICH ATAXIA & HUNTINGTON DISEASE We examine the best way to test drugs for Friedreich ataxia by developing new tests and monitoring the disease's natural history. We also look at issues related to predictive testing for Huntington disease in adults and children, and examine whether activity levels are related to disease severity.

RESEARCH OUTCOMES •

Discovered the benefit of orthopaedic surgery on function in Friedreich ataxia patients

•

Developed new tests to monitor treatments for Friedreich ataxia

•

COMMUNITY SCREENING FOR DISEASE We examine issues related to community screening for haemochromatosis (a preventable iron overload disorder), and screening for the risk of having children with Tay Sachs disease.

•

Conducted a survey of clinical geneticists on predictive testing for Huntington disease in children Screened almost 10,000 people for their risk of developing haemochromatosis Published on Tay Sachs disease screening program implementation

MAJOR SPONSOR •

Lefroy family and friends

Group Leader Associate Professor Martin Delatycki martin.delatycki@ghsv.org.au 42 ^ ANNUAL REPORT 2003

GERM CELL RESEARCH Recent advances in biotechnology have made the production of cells in vitro for replacement in disease treatment a reality. Using mouse models we can grow the reproductive cells needed for fertility once boys reach puberty. RESEARCH OVERVIEW

HIGHLIGHTS OF THE YEAR

Our research focuses on growing stem cells for reproduction in the male. We have discovered a new gene claspin, which has been shown to govern development of male germ cells (future spermatozoa) and is needed for production of good quality cells. Growing reproductive stem cells in vitro will potentially help pre-pubescent boys who have drug or radiation treatment, as their stem cells may be stored, cultured and transplanted at a later date to restore fertility.

•

Published in Biology of Reproduction

FUTURE OBJECTIVES • To further develop expansion of male reproductive cells outside the body for use in therapy MAJOR COLLABORATOR • Amersham Biosciences

Group Leader Dr Suzanne Hasthorpe sue.hasthorpe@mcri.edu.au

I GUT & LIVER DISORDERS

I ■i

INTESTINAL FAILURE AND CLINICAL NUTRITION

GUT MOTILITY

Many diseases of childhood have an adverse impact on nutritional status. When a segment of bowel is removed, the remaining bowei must compensate for this loss. We are studying how the bowel adapts and which new therapies improve this response. Using a preclinical model for short bowel syndrome In children, we demonstrated that bovine colostrum supplementation enhances the adaptive response following bowel resection, and identified changes in serum glucagon-like peptide-2 levels in the early adaptive response. We also study the epidemiology and risk factors for development of intussusception in Australia and Vietnam, to explain differences in incidence and to assist introduction of vaccines.

Chronic treatment-resistant constipation has been considered a behavioural disorder, however, our data suggest it may be an organic problem in many children. Half our patients showed slow movement of food In the colon when we followed the passage of a radioactive meal through their intestines. Using manometry to measure pressures in the colon, we correlated weak contractions with slow movement of food. We also examined the nervous system in the colon to see what could cause the slowing. We developed methods to quantify neurotransmitter density in the colon of children with slow transit constipation, and are mapping the locations of each type of transmitter and the receptors they bind to. The results may improve management of children with treatment-resistant constipation.

THE ROTARY LIVER CELL BANK

The liver cell bank research group focuses on the delivery of cells, from liver and bone marrow origins, to correct liver diseases and to gain a fundamental understanding of the process of cell engraftment, repopulation and differentiation. The transplantation of liver cells to patients with liver failure or metabolic liver diseases provides an alternative to whole liver transplantation that is a costly and highly specialised operation. Liver cell transplantation eliminates the requirement for major abdominal surgery since the cells are transplanted via a catheter. We aim to: •

Establish a human liver cell bank according to GMP guidelines and begin treatment of patients with metabolic liver diseases

• Optimise and define mechanisms for improving the success of cell transplantation in animal models

HIGHLIGHTS OF THE YEAR •

Katie Allen accepted to Emerging Leaders Program

i/)

O a. UJ

< Hi </) U4

MAJOR COLLABORATORS • Deakin University

• Awarded CASS Foundation grant for liver cell bank

•

Liver Transplant Unit, Austin Hospital

•

Liver cell bank commenced harvesting and banking liver cells

•

LifeGift, Australian Red Cross

• Julie Bines awarded NHMRC Practitioner Fellowship and invited on WHO Steering Committee

•

Prince Henry's Institute of Medical Research

•

National Hospital of Paediatrics, Vietnam

•

Fran Justice presented a keynote paper during Australasian Gastroenterology Week

•

Bridget Southwell presented the American Academy of Pediatrics Gans Lecture

• Andrea Harrington and Sebastian King awarded PhD scholarships

Group Leaders Dr Katie Allen katie.allen@rch.org.au

• World Health Organization

MAJOR SPONSORS • Rotary Clubs of Footscray, Lilydale, Essendon North, Bendigo, Echuca Moama • JD and Lyla Harris Foundation •

Rowly & Judy Paterson

•

Hurford Hardwood P/L

Associate Professor Julie Bines julie.bines@rch.org.au Dr Bridget Southwell bridget.southwell@nncri.edu.au ANNUAL REPORT 2003

HEART RESEARCH Our research is focused on heart disease in children. The ultimate aim is to improve diagnosis and treatment so that these children have a better quality of life. We are committed to improving outcomes for these children and their families. RESEARCH OVERVIEW

HYPOPLASTIC LEFT HEART SYNDROME (HLHS)

FUTURE OBJECTIVES

Each year more than 2015 children are born with congenital heart disease in Australia and more than 1300 are admitted to intensive care units after heart surgery. We study congenital heart disease, heart disease in newborns, pulmonary hypertension and thematic heart disease in children. We aim to combine excellence in cardiovascular research and clinical services to improve and deliver world-class public health and paediatric cardiology services.

A recent study demonstrated that a new type of operation results in better cardiac function in children with HLHS. This study used new equipment for noninvasive assessment of cardiac performance. As a result of using this procedure, the Royal Children's Hospital has now adopted this as part of routine surgery for HLHS.

• To develop collaborative relationships between all paediatric cardiac researchers in our region

POSTOPERATIVE INTENSIVE CARE Low cardiac output syndrome after surgery is a significant source of mortality related to heart disease in children. An important reason for low cardiac output is systemic inflammatory response so we have looked at the determinants of cardiac output after surgery. One important key to the inflammatory response is the innate immune response.

RESEARCH OUTCOMES • Christian Brizard presented at the Cardiology in the Young meeting, London, UK •

•

Dan Penny was invited to speak at the International Conference on Heart Failure in Children and Young Adults, Houston, Texas, USA

• To actively progress research into improving outcomes tor children with heart disease MAJOR SPONSORS •

Royal Children's Hospital departments

•

Big W

•

RCH 1000

•

RCH American Women's Auxiliary

•

National Heart Foundation

•

Mach-Gaensslen Foundation

•

Heartkids Victoria

Improved surgical outcomes for HLHS babies

Group Leaders Professor Dan Penny dan.penny@rch.org.au 44 ^ ANNUAL REPORT 2003 '■'I

Dr Christian Brizard christian.brizard@rch.org.au

RESEARCH OUTCOMES

HORMONE RESEARCH

•

Showed that impaired psychosocial wellbeing is a major negative outcome for young people with diabetes, while blindness and kidney disease are rare

•

Used new technology (CGMS) to show that unrecognised hypoglycaemia is common in childhood diabetes

•

Completed a long-term follow-up study on adults with intersex disorders, showing excellent outcomes for most people

•

Demonstrated that rickets (vitamin D deficiency) and iodine deficiency are re-emerging problems in Victorian children

Demonstrated that the appetite regulating hormone leptin is involved in brain development

Our research focuses on hormonal disorders in children: diabetes with its devastating long-term effects on eyes, kidneys and the developing brain; disorders of sexual development, particularly uncertain gender at birth, and its consequences; disorders of bone development, potentially leading to osteoporosis; and disorders of growth. RESEARCH OVERVIEW Our diabetes and neuroscience groups focus on diabetes in adolescence, and the effects of blood glucose control on brain development and function. The 'healthy bones' unit utilises our bone densitometer to gather information on normal bones and the effects of intervention on diseases affecting bone development.

•

HIGHLIGHTS OF THE YEAR

We use a holistic approach to assess diabetes outcomes, including clinical measures, costs of care, quality of life and patient satisfaction. We also investigate causes and therapies for clinical (hypoglycaemia and brain swelling) and psychosocial adverse events.

•

Reported the first successful use of insulin pump therapy in premature diabetic babies at the International Diabetes Federation Congress

•

Invited to lectures in Europe, India and Vietnam

•

Published 30 scientific papers and book chapters

O HI Q£

u <

FUTURE OBJECTIVES

We study adverse effects of topical cortisone therapy, anticoagulation, cystic fibrosis, cerebral palsy, and Immobilisation upon bone mineral accrual during childhood. GROWTH FACTORS, DIABETES AND THE BRAIN We showed that the growth factor IGF-I can protect the developing brain from damaging effects of low blood glucose, and that leptin (a key appetite regulator) plays a role in protecting the developing brain.

Group Leaders Professor George Werther george.werther@rch.org.au

in H 0£

in ui Of

DIABETES OUTCOMES

BONE DISORDERS

• To provide better neurological and psychological outcomes for young people with diabetes • To prevent early onset osteoporosis MAJOR COLLABORATORS • Austin Brain Research Institute •

University of Auckland

•

Ludwig-Maximillans University, Munich, Germany

Dr Fergus Cameron fergus.cameron@rch.org.au Associate Professor Garry Warne garry.warne@rch.org.au Dr Vincenzo Russo vince.russo@mcri.edu.au ANNUAL REPORT 2003

NTERNATIONAL CHILD HEALTH We focus on the use of epidemiological methods and public

Our research focuses on enhancing current strategies to diagnose,

health activities to improve the health of children living in poor

treat and prevent bacterial infections in children. It encompasses

circumstances.

basic and applied medical microbiology, with an emphasis on the

RESEARCH OUTCOMES

FUTURE OBJECTIVES

•

• To immunise the under-20 population of New Zealand using a specially constructed meningococcal B vaccine

•

Demonstrated the sensitivity of a rheumatic fever susceptibility blood test in Aboriginal Australians Estimated the burden of pneumonia in Fiji and Hib disease in Pacific Island Countries, Nepal and the Maldives

• To complete a report for WHO on the global control of group A streptococcal disease

Completed phase II studies of meningococcal B vaccine in New Zealand

• To develop new vaccine studies in the Northern Territory with the CRC for Aboriginal Health

HIGHLIGHTS OF THE YEAR •

•

Commenced the Fiji pneumococcal project with two of our staff now located in Suva Secured funding to fully evaluate the impact of skin infections on health in remote Aboriginal communities Received support from AusAID and WHO for a program to improve the quality of in-patient paediatric care in the Solomon Islands, East Timor, Indonesia and Cambodia Participated in WHO committees on pneumonia, measles and Hib disease

46 ^ ANNUAL REPORT 2003

III

MICROBIOLOGY & NFECTIOUS DISEASES

• To develop a new programs group of studies to define the burden of Hib disease in Asia • To develop a new program of pneumonia research in West Africa MAJOR COLLABORATORS • Australian International Health Institute •

Menzies School of Health Research

•

Co-operative Research Centre for Aboriginal Health

• World Health Organization

Group Leader Professor Kim Mulholland kim.mulholland@wch.org.au

mechanisms by which bacteria cause disease. RESEARCH OVERVIEW Our E. coli group worked on subtypes of E. coli, known as enteropathogenic and enterohaemorrhagic E. coli, with a view to discovering their pathogenic mechanisms and clinical correlations. Our Streptococcus group investigated the pathogenic mechanisms of group B streptococci, and our Helicobacter group looked for novel protective antigens of H. pylori.

which was previously unknown - are required by the bacteria to infect their hosts. We also showed for the first time specific antibodies directed against H. pylori can protect against infection with these bacteria. HIGHLIGHTS OF THE YEAR •

Roy Robins-Browne and colleagues awarded an NHMRC program grant

•

Roy Robins-Browne and Elizabeth Hartland awarded an Australian Research Council discovery grant to investigate mechanisms of the hostspecificity of E. coli

•

Larissa Nicholls was awarded her PhD for research on how enterohaemorrhagic E. coli binds to host cells

PATHOGENESIS OF DIARRHOEA CAUSED BY ESCHERICHIA COLI An important advance in our research effort included the discovery of a novel toxin, which some strains of enteropathogenic E. coli require to cause diarrhoea. We also learned more about the ways in which pathogenic strains of E. coli evolve from harmless strains and the strategies they employ to target their preferred host species.

MAJOR SPONSORS • Anadis Limited

VIRULENCE DETERMINANTS OF HELICOBACTER PYLORI We discovered that particular surface proteins of H. pylori-the function of Group Leader Professor Roy Robins-Browne r.browne@unimelb.edu.au

oxygen species and cell death in patient cell lines. RESEARCH OUTCOMES •

Identified a novel genetic cause of Complex I deficiency

•

Identified the 18th gene in which we have found mutations in patients

•

Published the first realistic estimate for prevalence of mitochondrial disorders, which is one in every 7600 births

«/> Of

MITOCHONDRIAL RESEARCH

HIGHLIGHTS OF THE YEAR

• Awarded three NHMRC project grants and one Muscular Dystrophy Association USA grant

•

10 papers published or in press

•

Gave plenary lectures at the International Congress of Inborn Errors of Metabolism

Mitochondria are the power plants in our cells that burn food to generate energy.

FUTURE OBJECTIVES

Mitochondrial diseases usually affect brain and muscle but can also affect any or all tissues at any age. Our research aims to improve diagnosis, treatment and prevention.

• To identify the remaining genes causing mitochondrial disorders

RESEARCH OVERVIEW

• To understand the links between gene defect and disease

Disorders of mitochondrial energy generation can be caused by mutations in potentially hundreds of nuclear genes, or in genes encoded by the mitochondrial DMA that we inherit only from our mothers. Our research is focused on three major areas: improving diagnosis and reproductive options; applying molecular and cell biology methods to identify causative genes; and understanding the disease mechanisms, both in primary mitochondrial disorders and more common conditions where mitochondrial dysfunction contributes to causing disease.

show that they had the same gene involved. This allowed genetic linkage studies (homozygosity mapping) that mapped the gene to a small proportion of the genome. We compared these locations with the expression pattern of 18,000 genes in the patient cell lines using a DNA chip. This identified one gene as the probable cause, which we confirmed by finding different mutations in the two families. LINKING GENES TO DISEASE We investigate how these genes cause disease by studying assembly of enzyme complexes, reactive

FINDING NOVEL GENES Complex I deficiency is the most common energy generation disorder. We identified a novel genetic cause by fusing two patient cell lines together to

u < LiJ UJ QC

• To use this knowledge to improve outcome in patients with mitochondrial disorders and more common diseases where mitochondria are involved, such as diabetes MAJOR COLLABORATORS •

La Trobe University

•

Baker Heart Research Institute

•

University of Newcastle upon Tyne, UK

MAJOR SPONSORS •

National Health and Medical Research Council

•

Muscular Dystrophy Association, USA

Group Leader Dr David Thorburn david.thorburn@mcri.edu.au ANNUAL REPORT 2003

-gmmm

m-%.

RESEARCH OUTCOMES •

Identified 74 testis genes and nine potential ovary genes

• Analysed four new candidate testis genes in detail •

Developed new rapid techniques for analysing the function of genes in the gonad

• Characterised gene alterations in intersex patients HIGHLIGHTS OF THE YEAR • Andrew Sinclair elected President of the Australian Society for Medical Research

MOLECULAR DEVELOPMENT Children of uncertain sex and related disorders are surprisingly common, with estimates

• Tanya Hurley was awarded her PhD •

Catherine Wilson awarded 1st class Honours and an Australian Postgraduate Award

•

Katarina Bilandzic awarded 1st class Honours and a Melbourne Research Scholarship

as high as one in 25 births. Our research aims to understand how changes in the knowledge will improve the care of these children and provide unique insights info the

• Awarded ARC Centre of Excellence in Biotechnology funding totalling $9.5 million

development and disease of these and other organs.

FUTURE OBJECTIVES

RESEARCH OVERVIEW

REGULATION OF GERM CELL DIFFERENTIATION

• To analyse the function of identified genes in gonad development

Development of a testis or ovary requires the coordinated functioning of many genes and proteins. A breakdown at any point in this complex developmental pathway may lead to a child of uncertain sex. We have previously identified a number of key genes in gonad development. Recently we identified other genes that have a potential role in testis and ovary development. We are now analysing the function of these genes to see how they interact with each other to form a testis or ovary.

As part of an ARC Centre of Excellence grant, we are isolating and characterising genes that regulate germ cell differentiation in the developing testis. Defects in these genes are likely to be responsible for male infertility and testicular cancer.

development of testes or ovaries result in children with ambiguous genitalia. This

FUNCTION OF GENES IN GONAD DEVELOPMENT We identified 83 genes that are new candidates for testis or ovary development. We analyse their function in gonad development by over-expressing or down regulating them in vitro and in vivo. These genes will also be examined in children of uncertain sex. 48 ^ ANNUAL REPORT 2003

DISORDERS OF SEXUAL DEVELOPMENT This comprehensive, collaborative study of the quality of life of intersex patients treated at the Royal Children's Hospital includes genetic, clinical, ethics and education studies. It will provide information to assist current and future clinical management of such patients.

• To further characterise gene alterations in intersex patients • To characterise genes that control germ cell differentiation and their potential role in testicular cancer and male infertility MAJOR COLLABORATORS •

Harvard University, Boston, USA

•

University of Montreal, Canada

•

University of Queensland

MAJOR SPONSORS •

Group Leader Associate Professor Andrew Sinclair andrew.sinclair@mcri.edu.au

National Health and Medical Research Council

• Australian Research Council

NEONATAL NEUROLOGY We aim to understand the causes of brain injury and alterations to brain development before and after birth. With this knovvledge we can reduce the risk of problems like cerebral palsy in premature and full-term babies. RESEARCH OVERVIEW I

Our research provides unique insights into the nature of cerebral injury and alteration in cerebral development in premature and full-term infants, utilising advanced magnetic resonance (MR) imaging and electrophysiological techniques. Understanding the factors prior to and after birth that influence brain structure and function are pivotal to designing interventions to improve outcomes. THE IMPACT OF PREMATURE BIRTH We have studied more than 250 premature infants at term with advanced MR imaging techniques to define how the brain is different in babies born prematurely. INTERVENTION IN THE FIRST YEAR OF LIFE

With an understanding of how the infant brain is altered through injury or premature birth, we try to optimise functional recovery with rehabilitation and brain plasticity with additional physiotherapy and psychology in a randomised controlled trial. We monitor brain growth and function in both groups.

BEDSIDE BRAIN WAVE MONITORING We assist in the development of new bedside brain monitoring technology, to monitor brain function and development in a similar manner to monitoring the heart. This will allow us to recognise infants having seizures and help predict risk of brain injury. RESEARCH OUTCOMES •

Developed an understanding of brain structure and development in infants

•

Identified why being born prematurely puts babies at a high risk of poor outcomes

HIGHLIGHTS OF THE YEAR •

Scanned more than 200 babies without anaesthesia with excellent pictures

•

Developed techniques for studying the computer visualised infant brain and how it may be altered

•

Followed up babies at two years of age and found relationships between brain structure at the time of discharge from the neonatal unit and their performance at two years

HORMONE LEVELS AND BRAIN DEVELOPMENT Being born prematurely removes babies from important hormones in utero, which may help develop the brain. We study the role of hormone levels in relation to brain development in babies.

• To develop a state-of-the-art international MR imaging centre for children at MCRI

I I

Harvard Medical School, Boston, USA

• Washington University, St Louis, USA

FUTURE OBJECTIVES

I'J

MAJOR COLLABORATORS •

Group Leaders Associate Professor Terrie Inder terrie.inder@rch.org.au

MAJOR SPONSORS •

National Health and Medical Research Foundation

•

Brockhoff Foundation

Dr Rod Hunt rod.hunt@rch.org.au ANNUAL REPORT 2003

NEONATAL RESEARCH v-;.'

We aim to improve the health and wellbeing of sick babies and their families by undertaking careful research into the causes of their

It’

illness, the treatments used and their long-term outcomes. RESEARCH OVERVIEW Our research includes large, multi-centre, randomised clinical trials of neonatal treatments supported by basic research and observational studies. These focus on resuscitation and improving respiratory care. We also study infection and nutrition.

•

Reduced the incidence of neonatal chronic lung disease

•

Improved the scientific basis for neonatal resuscitation

HIGHLIGHT OF THE YEAR •

Peter Davis was awarded an NHMRC Practitioners Fellowship

NASAL CPAP FOR VERY PRETERM INFANTS This is an international randomised controlled trial (RCT) of CPAP or intubation and ventilation at birth in very premature babies, to determine whether CPAP from birth reduces neonatal chronic lung disease. Our goal is to recruit 600 babies.

T|i|

EFFICACY AND SAFETY OF METHYLXANTHINES This is an international multi-centre trial of methyixanthines (caffeine) versus placebo for treating apnoea of prematurity, to determine how caffeine affects neurodevelopmental outcome for very low birth weight infants. Our goal is to recruit 2000 babies. RESEARCH OUTCOMES •

Developed better neurodevelopmental outcomes for survivors of neonatal intensive care

Group Leaders Professor Colin Morley colin.morley@wch.org.au ANNUAL REPORT 2003

FUTURE OBJECTIVES • To evaluate current techniques of neonatal resuscitation with novel monitoring devices • To organise a large international RCT of two levels of oxygen saturation to determine whether targeting lower saturations can reduce retinopathy of prematurity and chronic lung disease MAJOR COLLABORATORS •

Department of Physiology, Monash University

•

Royal Children's Hospital departments

•

Royal Women's Hospital departments

•

University of Melbourne

MAJOR SPONSORS •

National Health and Medical Research Council

Dr Peter Davis peter.davis@rch.org.au

• Developed genetic techniques to correct muscular dystrophies • Identified new genetic causes for epilepsy to lead to better antiepileptic drug design • Developed an understanding of genetic or pregnancy-related factors that may result in disorders of brain structural development HIGHLIGHTS OF THE YEAR • Established research neurogenetic clinics in epilepsy and brain development • Awarded ARC funding to discover why brain injuries at different ages result in different outcomes FUTURE OBJECTIVES • To develop a state-of-the-art international MR imaging centre for children at MCRI

NEUROSCIENCES

• To establish our group as a world-class leader in genetic causes of childhood neurological disease

Our research is aimed af undersfanding diseases affecting the central and peripheral nervous system of children in order to advance diagnosis and treatment. We study epilepsy, neuromuscular diseases and the consequences of genetic diseases and prematurity on the developing brain.

MAJOR COLLABORATORS • Brain Research Institute

RESEARCH OVERVIEW We aim to identify the causes of epilepsy and provide better treatment using brain surgery, new imaging techniques and new drugs. We also focus on developing treatments for muscular dystrophies and disorders of peripheral nerves, and identify babies at risk for brain damage from prematurity or lack of oxygen to guide new therapies. Finally, we identify the genetic basis of neurological diseases to provide diagnostic tests and improved genetic and prognostic counselling.

NEUROLOGICAL FEATURES OF THE 22Q11 DELETION SYNDROME We are studying more than 180 patients with this common chromosomal syndrome in an attempt to determine why they have neurological problems and which areas may be recognised early for targeted therapies.

• Howard Florey Institute • Melbourne Neuromuscular Research Institute • Genetic Health Services Victoria MAJOR SPONSORS • Australian Research Council • National Health and Medical Research Council • Muscular Dystrophy Association, USA

RESEARCH OUTCOMES • Improved treatment options for children with epilepsy Group Leader Associate Professor Andrew Kornberg andrew.kornberg@rch.org.au ANNUAL REPORT 2003

ORTHOPAEDICS & GAIT ANALYSIS Orthopaedics looks after children who have bone injuries or chronic diseases of the musculoskeletal system. Our research is aimed at understanding how these children walk, how we can help them walk more easily, and the impact this has on their lives. RESEARCH OVERVIEW

RESEARCH OUTCOMES

The Hugh Williamson Gait Analysis Service uses high technology equipment to measure a child's pattern of walking and the load they exert on the joints while walking. This information can be used to identify exactly what is wrong with a child who has difficulty walking and to plan surgery. Our research aims to identify and further our biomechanical understanding of specific walking patterns within different patient groups, and to evaluate the effect of interventions based on this.

•

Improved orthopaedic surgery and rehabilitation for children with cerebral palsy

•

Improved surveillance of hip displacement in children with cerebral palsy

CLASSIFICATION OF GAIT PATTERNS We aim to identify patterns of walking among children with cerebral palsy. This should greatly improve clinical decision-making for these children and lead to better outcomes.

LONG-TERM OUTCOMES OF ORTHOPAEDIC SURGERY

'i"

Modern orthopaedic surgery for children with cerebral palsy aims to set them up for the rest of their lives yet there is almost no data on long-term follow-up of these children. We are now embarking on studies to follow up how children are getting on five years after their surgery.

HIGHLIGHTS OF THE YEAR •

Exceptional representation at the American Academy of Cerebral Palsy and Developmental Medicine

•

Roslyn Boyd and Christine Olesch completed their PhD theses

•

Invited to present at the Gait and Clinical Movement Analysis Society (GCMAS)

•

Richard Baker appointed to Executive Board of GCMAS (first member outside North America)

FUTURE OBJECTIVES

MAJOR SPONSORS

MAJOR COLLABORATORS

•

Musculoskeletal Research Centre, La Trobe University

• Telstra

•

Oxford Metrics PLC

•

Group Leaders Professor H Kerr Graham kerr.graham@rch.org.au 52 ^ ANNUAL REPORT 2003

SIMON SCHLUTER, THE AGE

• To perform the first randomised controlled trial of orthopaedic surgery for children with cerebral palsy who have difficulty walking

Associate Professor Richard Baker richard.baker@rch.org.au

Nike

• Allergan PLC Camp Ltd

PITUITARY RESEARCH Most children who are born with pituitary gland defects fail to thrive, and in some cases have severe symptoms that are potentially fatal. We aim to develop stem cell-based therapies for children with pituitary disorders.

We examine intellectual and learning abilities, social skills,

RESEARCH OVERVIEW Approximately one in 2500 children have a pituitary disorder. Pituitary hormone deficiencies in children cause poor growth and metabolism, delayed puberty and an inability to deal with i sickness and stress. Some pituitary t disorders are caused by changes in genes that are important for pituitary formation and function. Stem cells have enormous potential to lead to the development of improved therapies for all pituitary disorders. RESEARCH OUTCOMES •

•

Generated a mouse model for X-linked hypopituitarism, a severe inherited pituitary disease Identified a new 'stem' cell type in the adult pituitary gland

HIGHLIGHTS OF THE YEAR •

Lisa Wilson awarded the Developmental Biology Society Poster Prize at COMBIO 2003

Group Leader Paul Thomas paul.thomas@mcri.edu.au

PSYCHOLOGICAL DEVELOPMENT emotions and behaviour in children in order to develop effective

oe.

O Q.

prevention and intervention programs.

•

Nicola Solomon awarded travel grants from AMRAD and endocrine societies

•

Paul Thomas awarded an NHMRC project grant

FUTURE OBJECTIVES

RESEARCH OUTCOMES •

• To identify genes that cause inherited pituitary disorders and understand their function • To develop new therapies for pituitary diseases using adult and embryonic stem cells MAJOR COLLABORATORS •

University of Michigan, USA

•

National Institute for Medical Research, UK

•

Data from our study testing a neuropsychological model of spatial memory has significant implications for pre-surgical assessment of children being considered for temporal lobectomy Demonstrated that advances in neonatal intensive care have increased survival rates for infants

Group Leaders Professor Vicki Anderson vicki.ander5on@rch.org.au

oc born very preterm, but the rate of neurobehavioural deficits has remained stable

RESEARCH OVERVIEW We investigate the impact of brain pathology in children to identify factors that influence outcome, which will facilitate development of early interventions designed to maximise recovery and quality of life. We also identify risk and preventive factors and treatment efficacy for emotional and behavioural problems in childhood.

Ill

HIGHLIGHTS OF THE YEAR •

Published 18 journal articles and three book chapters

•

Peter Anderson was awarded an NHMRC Trainee Fellowship

•

Rani Jacobs was awarded an ARC Postdoctoral Research Fellowship

•

Rani Jacobs and Robyn Stargatt awarded PhDs

u < 111 (/) UJ

MAJOR COLLABORATORS •

University of Melbourne

•

Royal Children's Hospital Neuroscience Centre

•

Sydney Children's Hospital

• Toronto Hospital for Sick Kids, Canada

! Dr Elisabeth Northam lis.northam@rch.org.au ANNUAL REPORT 2003 i 53

HIGHLIGHTS OF THE YEAR • Jane Halliday awarded an Honorary Associate Professorship, University of Melbourne •

Evi Muggli awarded an MCRI grant

• Veronica Collins awarded her PhD • Alice Jaques awarded an Academic Activity grant. University of Melbourne FUTURE OBJECTIVES • To develop Spina Bifida Information Network (SPINE) • To investigate the geographic distribution of children born with Down syndrome and the possible relationship to uptake of prenatal testing MAJOR COLLABORATORS • Victorian Perinatal Data Collection Unit and Birth Defects Register •

PUBLIC HEALTH GENETICS

Centre for the Study of Mothers' and Children's Health, Melbourne

•

Department of General Practice, University of Melbourne

We undertake research into aspects of genetic services, including prenatal genetic

•

Royal Women's Hospital, Melbourne

testing and genetic counselling. We aim to strengthen the understanding and appropriate

•

Psychology and Genetics Research Group, King's College, London

•

Centre for Family Research, Cambridge University

use of genetic testing in the community. RESEARCH OVERVIEW

RESEARCH OUTCOMES

In 2003 we produced the annual report on all prenatal diagnostic testing for birth defects in Victoria; evaluated combined first trimester prenatal screening test for Down syndrome; analysed women's and health professionals' preferences for screening tests for Down syndrome; developed decision aids for women offered prenatal testing for Down syndrome to be evaluated in randomised controlled trial with Victorian general practitioners; and completed data collection for a study evaluating whether genes associated with blood clotting contribute to causing cerebral palsy.

•

54 ^ ANNUAL REPORT 2003

MAJOR SPONSORS

Developed software to calculate maternal age risk of Down syndrome for GPs to use with pregnant women

•

Department of Human Services

•

National Health and Medical Research Council

•

Calculated prenatal detection rates of Down syndrome for Victoria

• William Buckland Foundation

•

Found that current prenatal screening practices are a more effective filter for detection than advanced maternal age alone

•

Contributed to Recommended best practice guidelines for antenatal screening for Down syndrome

Group Leader Associate Professor Jane Halliday jane.halliday@mcri.edu.au

STAPH & STREP We research the causes and treatments of several diseases caused including rheumatic fever, toxic and septic shock. These diseases

SURGICAL RESEARCH

are significant causes of death in Australian children, with rheumatic

Our research focuses on diseases of the bowel and genitals

by two important bacteria (Staphylococcus and Streptococcus),

requiring treatment. We aim to understand the causes and

fever having important implications in our indigenous populations. RHEUMATIC FEVER We aim to develop an effective diagnotic test for this disease. This would have enormous benefits, especially for Aboriginal children, who have among the highest rates of rheumatic fever in the world. We also investigate the possible role of bacterial superantigens (toxins able to induce large amounts of cytokines in the blood) in the development of rheumatic fever.

diseases of bowel function, ambiguous sexual development,

*■

■e-

LX i

These diseases have very high mortality rates. Superantigens and innate immunity seem to play a major role. L-.... HIGHLIGHTS OF THE YEAR

•

Completed two studies involving patients with rheumatic fever in Darwin Published in The Lancet, Journal of Infectious Diseases and Hepatology

•

Rockefeller University, New York, USA

MAJOR COLLABORATORS

• Victorian Infectious Diseases Reference Laboratory

•

Menzies School of Health, Darwin

Group Leaders Dr Kumar Visvanathan kumar.visvanathan@mcri.edu.au

Royal Children's Hospital departments

Dr Nigel Curtis nigel.curtis@rch.org.au

We identified a new cause of constipation that fails standard treatments in 7200 patients and are investigating the clinical and histological characteristics.

control of molecules released from the genitofemoral nerve. This nerve also controls closure of the hole through which the testis descends, leading to a possible non-surgical treatment for inguinal hernia.

SEXUAL DEVELOPMENT

FUTURE OBJECTIVES

We completed a 30-year follow-up study of intersex patients, and continue to study anatomical development and management strategies in these children. The follow-up study shows better outcomes from our research than has been reported elsewhere in the world.

• To further characterise the bowel disease of slow transit constipation

TESTICULAR DESCENT AND INGUINAL HERNIA

• Zoology Department, University of Melbourne

Descent of the fetal testis into the scrotum is extremely complex. Our research shows that the testis grows towards the scrotum, under the

• Anatomy and Cell Biology, University of Melbourne

SLOW TRANSIT CONSTIPATION

iii

f;:;

a. 0^

J S'4:’

undescended testis and inguinal hernia.

SEPTIC AND TOXIC SHOCK

•

develop betfer (non-surgical) treatments. Key areas are new

X u 0^

< UJ lO UJ

• To test how molecules from the genitofemoral nerve control testicular descent and hernia closure MAJOR COLLABORATORS •

•

Howard Florey Institute

Queen Mary Hospital, Hong Kong

Group Leaders Professor John Hutson john.hutson@rch.org.au ANNUAL REPORT 2003

• -

GENETIC HEALTH DIRECTOR'S REPORT This has been a year of celebration and consolidation. A temporary reduction in our medical genetic staff, due to end of contract, retirement and study leave, gave impetus to an efficiency drive that examined every aspect of the clinical service. Throughout this period, the team spirit and contribution to the process were outstanding. We achieved uninterrupted service delivery and redeployed some of our staff to good effect, resulting in refreshing new appointments. In particular, Mac Gardner was appointed Geneticist to the Royal Women's Hospital, Les Sheffield to the Southern Health Network and Robin Forbes as Clinical Services Coordinator. We welcomed Ingrid Winship as head of Adult Genetics and Cancer Genetics and David Blake, our new Office/Data Manager. John Rogers' Festschrift, a full-day conference and farewell dinner at the Melbourne Zoo, attended by Dame Elisabeth Murdoch and many of John's family, friends and colleagues, was a fitting celebration of his 32-year contribution to genetics. During the year we launched the Tay-Sachs prevention program, the new GP genetic education resource, and the Bruce Lefroy Centre for Genetic Health Research. Martin Delatycki and Heidi Peters won NHMRC Career Developmental Awards. Mac Gardner published the third edition of his book. Chromosome Abnormalities and Genetic Counselling, the highest-selling book at the American Society of Human Genetics. A number of our staff successfully completed their training and we had an impressive number of publications, especially considering our team is not funded for its commitment to research.

Our laboratories have continued to excel and deliver uninterrupted services despite constraints. We won the competitive tender for the delivery of genetic services, including newborn screening services to Tasmania, which are now secured through a service agreement with the Tasmanian government. The expanded newborn screening program for Victoria is highly successful. Previously, we diagnosed for the Coroner a condition called MCAD deficiency in babies who died unexpectedly each year. Now babies with MCAD deficiency are diagnosed and treated from birth and are alive and well. Sadly, Professor David M Danks passed away in July 2003. Together with the MCRI, Royal Children's Hospital (RCH) and Camberwell Grammar School, we paid tribute to his many achievements at a commemorative service in August 2003.

We have enjoyed the support of our stakeholders and continued to meet the growing need for genetic services regardless. We have chosen selected aspects of our service to highlight in this annual report. For a more detailed update on our clinical and laboratory services please visit our website wvvw.genetichealthvic.net.au

L <

■

O H U

> (/> UJ

Professor Agnes Bankier Director

Of UJ

< lU

David started the discipline of clinical genetics in Australia in the late 1960s and established the Murdoch Institute, as well as the metabolic and clinical genetic services now known as Genetic Health Services Victoria. Our achievements have been built on his foundations and vision.

u ILU

z 111 o

The year was not without direct challenges for our organisation. An investigation by the Health Insurance Commission deemed that Genetic Health, technically 'a private company' without Federal Ministerial exemption, could not raise a Medicare fee for clinical consultations. This income had previously financed our staff professional development, which must now be managed from our core budget. Lack of growth funding from the Department of Human Services has meant that we have had to prioritise demands for new genetic services and be even more efficient in their delivery.

’i:

Genetic Health Services Victoria Executive Clockwise from top left: Dr Samantha Wake, Dr James Pitt, Anne Cronin, A/Professor Martin Delatycki, A/Professor Agnes Bankier, A/Professor Ravi Savarirayan. Not pictured: Dr Howard Slater

ANNUAL REPORT 2003

JOHN ROGERS RETIRES Dr John G Rogers (pictured right) was the mentor for, and trained, a generation of clinical geneticists and genetic counsellors, people who are now the leaders in clinical genetics in Australasia. John trained with Victor McKusick at the Johns Hopkins Hospital in Baltimore. When he returned to RCH in 1976, he was instrumental in establishing clinical genetic services for Victoria and Tasmania together with Professor David Danks, and establishing the skeletal dysplasia service and research in osteogenesis imperfecta with Mr Bill Cole. John has been an active member of the Human Genetics Society of Australasia, served on many of its committees and was Chair of its ethical and social issues subcommittee. He was Registrar to the College of Paediatrics and an active contributor to the Little Peoples' Association of Victoria and the Muccopolysaccharidosis support groups. One of his many interests included counselling families regarding grief and loss. He was a staff member and facilitator of the Elizabeth Kubler-Ross LTD workshops and has been a source of support to our staff and staff of the RCH, facilitating many groups.

Until recently he was also a Board member of Very Special Kids, where he contributed generously to its activities. John was farewelled with a well-deserved Festschrift and celebration dinner attended by some 100 guests, including the people he had trained who paid tribute to the many lives he had touched. We wish him well in his retirement and look forward to his ongoing contribution to Genetic Health Services as a mentor to our trainees and senior staff.

IJl

k &

CLINICAL GENETICISTS TRAINED BY JOHN ROGERS NOW IN PRACTICE David Amor (Vic), Agnes Bankier (Vic), John Christodoulou (NSW), Allison Coley (NSW), Jan Craig (Vic), Martin Delatycki (Vic), Janice Fietcher (SA), Eric Haan (SA), Paul James, Jim McGill (Qld), David Ravine (Cardiff), Steve Robertson (NZ), Ravi Savarirayan (Vic), MK Thong (Malaysia), Meredith Wilson (NSW). THE METABOLIC SERVICE AT GENETIC HEALTH

The Metabolic Service provides a diagnostic and therapeutic sen/ice to all of Victoria and Tasmania, serving a population of approximately five million. The multidisciplinary metabolic team consists of metabolic physicians, metabolic fellows in training, nurse/genetic counsellors, dietitians and social workers. Where appropriate, the dietitians design diets suitable for patients with particular diagnoses and provide guidance to parents regarding compliance with these diets. Our counsellor provides genetic counselling to families, and our social worker makes sure patients and families are linked to the appropriate community services and are well supported.

Metabolic services in Victoria were first established at the RCH by the late Professor David M Danks and grew from his interest in clinical and biochemical genetics. In parallel with the development of clinical services, there was active basic research into the causes of metabolic disorders.

We provide on-going outpatient and inpatient care for more than 400 patients diagnosed with a large variety of genetic metabolic disorders when they are admitted to hospital because of a metabolic decompensation. We encourage 'shared care' of patients and we participate in the care of patients known to us but under other hospital units.

Clinical and research activities inter-digitated, creating a seamless interface "from bench to bedside" to the benefit of both. Astute clinical observations stimulated research and a number of conditions were delineated for the first time.

We hold regular clinical meetings with our colleagues in paediatric neurology and endocrinology at Monash Medical Centre to discuss patients who are under our 'shared care'.

These works were published in international scientific literature and brought recognition to the Murdoch institute as a centre of excellence. Professor Danks and Dr David Pitt commenced the Newborn Screening Program, initially screening for

58 ^ ANNUAL REPORT 2003

PKU, in the late 1960s at Mont Park. When we were established in 1987, the Clinical Metabolic Service and the Newborn Screening Program came under their management and an expanded program, using the Tandem Mass Spectrometer, was introduced in 2001. In 2000 under an agreement with RCH, the metabolic laboratory was also transferred under the umbrella now known as Genetic Health Services Victoria.

Dr John Rogers

We also work closely with several paediatricians and dietitians in rural and regional Victoria, sharing the care of patients who live far from Melbourne to ensure quick assessment and therapeutic intervention, and to minimise morbidity. The metabolic team consults on patients referred by paediatricians, neurologists and other physicians at RCH, by neonatal care units, paediatricians and other physicians from all over Victoria using the expertise and resources of the RCH. An early, rapid diagnosis and institution of therapy may prevent severe morbidity and mortality. Therefore, we have a metabolic fellow and a metabolic consultant on call 24 hours a day, seven days a week, to deal with problems arising with currently managed patients. They also provide consultative support to paediatricians and other physicians in the community or hospitals.

completely eliminate acute presentations and admissions to hospital. Many metabolic physicians in Australia and Southeast Asia trained at Genetic Health and regular training is also provided to paediatric trainees, physicians, dietitians and nurses. The metabolic nurse also provides on-going education to midwives and domiciliary nurses regarding newborn screening and metabolic disorders and our dieticians are involved in teaching dietetics students about these disorders.

The whole team is involved in teaching in the Graduate Diploma course of Genetic Counselling and regularly presents research results at national and international conferences. It is our goal to strengthen the links with RCH, other hospitals and paediatricians from country Victoria, and to expand the 'shared care' structure for our patients at their 'medical homes'. A physician has been trained to care for adult patients and we are working with the Department of Human Services to establish adult metabolic services.

The metabolic clinical service works closely with the Newborn Screening, Metabolic and Mitochondrial laboratories of Genetic Health and MCRI. Close clinical laboratory liaison includes a weekly reporting session in which all metabolic tests are reviewed by the scientists and clinicians to ensure quality reports on results. DEVELOPMENTAL RESEARCH AIMS TO EXPAND THE RANGE OF METABOLIC TESTING Mitochondrial function is studied in the mitochondrial research laboratory of MCRI, arguably one of the best of its kind in the world. This laboratory is a referral laboratory for Australia and Southeast Asia. The clinical team works closely with the laboratory scientists, providing background work-up of patients thought to have a mitochondrial disorder, and adding clinical input into the laboratory reports of test results.

if i.

The expanded Newborn Screening Program, which commenced in early 2002, enables early diagnosis of many potentially serious diseases and the institution of early therapy, although screening does not

ANNUAL REPORT 2003

i 5’

investigations in patients with similar problems. Damien investigated the application of a novel DNA technique, which we recognised had great potential for fast, accurate and cost-effective analysis in prenatal diagnosis. The project proved successful and was published as the first assessment of the technique in a clinical diagnostic setting. A second project assessed the use of the same technique for the diagnosis of Charcot Marie Tooth disease.

i . r'**

L O

Both Damien and Phung published the results, as co-authors. With talented young scientists like these, the future of R&D is in good hands. DOROTHY FRANCIS - DIETICIAN Ms Dorothy Francis trained in the dietary treatment of children with metabolic disorders in London and has worked in this area for more than 40 years.

Dr Howard Slater with students Damien Bruno and Phung La.

CYTOGENETICS R&D - AN INTEGRAL PART OF A HIGH-QUALITY SERVICE

chromosome abnormalities they find in terms of the genes involved.

Since the number of chromosomes in the normal human karyotype was established in 1956, clinical cytogeneticists have become increasingly skilled at identifying the great variety of chromosome abnormalities that interfere with normal fetal, neonatal, childhood, adolescent and adult development.

Our Cytogenetics Laboratory has always been committed to research and development. It is now very clear that to offer the highest quality of service, a vibrant R&D program is more important than ever.

However, even with newer analytical techniques that reveal detail beyond that possible with light microscopy, it has only been possible recently to relate these abnormalities of chromosome structure to the underlying gene structure. The Human Genome Project has provided a complete sequence including the location of known genes. There are approximately 15,000 known genes and an estimated 15,000 still to be discovered. There is therefore a lot of work ahead to understand the clinical significance of many genes whose functions are still not understood. Cytogeneticists at Genetic Health Services are now beginning to describe the

60 ^ ANNUAL REPORT 2003

Our experience has demonstrated the value of research to solving complex problems in our diagnostic work. Students from Royal Melbourne Institute of Technology (RMIT) have contributed to such research during the work-practice component of their Medical Sciences degree. Having young students around has many advantages for all concerned. Last year two RMIT students, Phung La and Damien Bruno, made outstanding contributions to our work. Phung extended our investigations into the nature of translocation breakpoints at the DNA sequence level. She successfully mapped three translocations associated with autism or epilepsy and identified candidate genes for the conditions in these particular patients. This work extends our expertise, contributes to the discovery and identification of clinically significant genes and indicates areas of focus for

Initially working at the RCH, she was appointed to the metabolic service of Genetic Health Services in 1987. She has been deeply involved in the development of special diets for patients with metabolic disease and is well recognised internationally for her expertise. Dorothy has been invited to lecture at many international meetings - a credit to Genetic Health Services Victoria - and Dorothy's devotion to the patients has been exemplary. She has been an active advocate to government organisations to ensure appropriate funding for their special diets and medications. Dorothy has participated in Federal Committees regarding registration of foods and diets in Australia. She has been an active member of the Australasian Society of Inborn Errors of Metabolism and was the ■ dietitians' representatives to the Society's counsel from its inception in 1990 until 2001.

Dorothy Francis

BONE DYSPLASIA PROGRAM Inherited bone and joint disorders, such as dwarfing conditions, arthritis and brittle bone disease, pose significant medical, social, and ethical dilemmas that require expert and integrated management. Collectively, these conditions present a large burden of disease to our community and significant cost to our health care system.

Genetic Health has a long and proud tradition of expertise and services for children and adults with inherited disorders of bone that began with Professor David Danks in the early 1970s. This service was expanded by John Rogers and is now run by Ravi Savarirayan, providing diagnostic, management and allied health services to individuals of all ages affected with inherited disorders of the skeleton, throughout Victoria. Ravi originally trained with Professor David Remoin in LA and rapidly gained international recognition for his expertise.

For many years, senior social worker Margaret Sahhar has worked with the families to provide advocacy and support. Through her work with the SSPA patient support group, she was instrumental in establishing the Genetic Support Network of Victoria (GSNV). Skeletal dysplasia clinics are held at the RCH, Monash Medical Centre and rural Victoria. These multi-disciplinary clinics bring together geneticists, orthopaedic surgeons, endocrinologists, physiotherapists, social workers and genetic counsellors, who together provide comprehensive care for patients and their families.

a: O u >

Ravi also consults on these conditions for South Australia and New Zealand. And education services provided by the team to schools and workplaces increase awareness and understanding of these conditions and decrease their stigmatisation.

in lU

> Q£ 111

John Bateman and his Cell and Matrix Biology group conduct basic research into these disorders.

Ravi and John were successful in winning one of the inaugural MCRI theme grants, allowing best clinical practice to be combined with cutting-edge medical research to bring direct benefits to patients. The bone disorders program also has formal links with the Education and Ethics teams at MCRI, with the aim of evaluating ethical implications of research and education regarding these conditions.

u X (J 1Ul

Z ill

This service is recognised for its expertise and receives referrals for management and diagnostic advice for patients and their doctors from all around Australasia. Genetic Health is proud to be recognised as one of the leading centres worldwide in the diagnosis, management and research of skeletal dysplasia.

Associate Professor Ravi Savarirayan ANNUAL REPORT 2003 *

GENETIC HEALTH STAFF LIST Chairman Professor Bob Williamson FRS FAA Director A/Professor Agnes Bankier Chief Operating Officer Anne Cronin Clinical Geneticists Dr David Amor A/Professor Agnes Bankier Dr Martin Delatycki Dr Mac Gardner Dr John Rogers (to July) A/Professor Ravi Savarirayan A/Professor Les Sheffield Dr Sue White Metabolic Physician Dr Avihu Boneh Clinical Genetics Fellows Dr Kate Gibson Dr Marion Harris Dr lan Hayes (from June) Dr Paul James (to July) Dr Angeline Lai (to August) Dr George McGillivray POSSUM Project A/Professor Agnes Bankier Dr Catherine Rose Principal Genetic Counsellor/Privacy Officer Dr Samantha Wake Genetic Counsellors Sonja Bade Dr Clara Gaff Lisa Gordon Margaret Ross Associate Genetic Counsellors Sonja Bacic Dr Jo Burke Lisette Curnow Susan Fawcett Jacqueline Greenberg Tarli Hall Anna Henry Victoria Hill Jillian Kennedy (from May)

62 ^ ANNUAL REPORT 2003

'i j: ■

Hazel Lewis (from October) Ivan Macciocca Michelle Mourik Vicki Petrou Kathryn Ruivenkamp Alison Thornton Jane Wallace (from October) Jonathan Whitty Senior Social Worker Margaret Sahhar Social Workers Caroline Lambert Ros Tassicker Clinical Services Coordinator/Quality Assurance Officer Robin Forbes Metabolic Dietitian Dorothy Francis Metabolic Nurse/Genetic Counsellor Helen Upton Administration Services Manager Margaret Harris (to October) David Blake (from December) Personal Assistant to Director Dominique Speirani Clinic Coordinators Sue Hilton Sharon Vandersluis Clinical Administrative Assistants Debbie Davis Michelle Francazio Liz Kanellos Maureen Ralph HaemScreen Coordinator Amy Niselle Laboratory Quality Assurance Officer Anne Robertson CYTOGENETICS LABORATORY Head Dr Howard Slater Deputy Head (Prenatal) Mark Fertile

Head (Postnatal) Jacinta Ryan Administration Bo Jezierski Fiona Keltie Ernita Paine Scientists Essra Bartlett Alison Blackstock Amber Boys Trent Burgess Kathy Butler Jacquie Challis Selga Cirulis Samantha Connors Michael Cronin Tracy Eleming David Francis Wendy Francis Olivia Giouzeppos Lily Gowans Julie Hammer Tie Lan Han Louise Hills Helen Jackson Jo Kelly Paula Lall Patricia Moore Con Ngo Fiona Norris Sara Nouri Ralph Oertel Vida Petrovic Vlad Pupko Lynne Ryan Enza Soubjaki Lan Ta Marie Thorpe Sally Treadwell Technologists lan Brooks Alan Corral Wall Drummond Lynda Phillips Paul Yao Students James McGhie Emma Northrop

MOLECULAR GENETICS LABORATORY Head Dr Desirbe du Sart Scientists Vanessa Calabro Shannon Cowie Ellen Craig (from February) Maria Kaps Steve Nasioulas Sarah-Jane Panteleo Dean Phelan Janet Shaw Melanie Smith Anna Wakefield Laboratory Technician Tom Milovac Student Damian Bruno (shared with Cytogenetics)

Phlebotomist Sara Grant Laboratory Assistants Mandy Parfitt Ian Burns Patricia Snell Rina Marinucci VCGS Specimen Reception Caroline Schram Evelina Pelle MITOCHONDRIAL DIAGNOSTIC LABORATORY Head Dr David Thorburn Research Officer Denise Kirby Research Assistant Taryn Charles

NEWBORN SCREENING Scientist-in-Charge Nick Tzanakos

Quality Officer Erin Oldaker

Medical Scientists Manal Ibrahim Nella Napolitano Thanh Nguyen

BRUCE LEFROY CENTRE FOR GENETIC HEALTH RESEARCH Martin Delatycki Louise Corben Debbie Davis Rony Duncan Alexandra Gason Zoe Horton Amy Nisselie Kaye Trembath

Education Officer Helen Upton METABOLIC SCREENING Senior Scientist James Pitt Scientists Mary Eggington Avantika Mishra MATERNAL SERUM SCREENING Scientist-in-Charge Ivan Francis Medical Scientists Leonard Bonacquisto Vivienne laschi Vicki Katsonis Gregoria Luna

GENETIC SUPPORT NETWORK VICTORIA Eilis Hughes Emma Rickard

.-J i

FINANCIAL REPORT

{

'i !»?

:■:

jSl%,

I ii

lila ilB'si

r'^tyvrf’’'

Murdoch Childrens Research Institute and its controlled entities

STATEMENTS OF FINANCIAL PERFORMANCE FOR THE YEAR ENDED 31 DECEMBER 2003 r

CONSOLIDATED

S'. Revenue from research & clinical activities

THE COMPANY

2003

2002

2003

2002

$ 38,379,482

$ 27,653,298

28,194,431

37,585,451

Depreciation & amortisation

(1,740,558)

(1,370,497)

(1,653,893)

(1,329,126)

Other expenses for research & clinical activities

(41,432,608)

(36,679,640)

(30,658,998)

(27,127,413)

Deficit on research & clinical activities

(4,793,684)

(464,686)

(4,659,593)

(262,108)

Investment & Donation Revenue

5,467,533

932,995

5,346,605

886,255

Commercialisation Expense

(285,31 1)

(120,000)

(285,311)

(120,000)

348

‘401

I :Net surplus

388,538

348,309

401,701

504,147

Net decrease in Retained Profits on the initial adoption of Revised AASB1028- Employee Benefits

(15,517)

Increase in asset revaluation reserve - Fair value adjustments

321,153

(638,410)

321,153

(638,410)

Total expense & valuation adjustments recognised directly in Members Funds

305,636

(638,410)

305,636

(638,410)

Total changes in Members Funds

P4.174

(290,101)

707,337

(134,263p

64 ^ ANNUAL REPORT 2003

Murdoch Childrens Research Institute and its controlled entities

STATEMENTS OF FINANCIAL POSITION AS AT 31 DECEMBER 2003 2003 CURRENT ASSETS Cash assets Receivables Other financial assets 'TOTAL CURRENT ASSETS

407,234 4,523,147 983,164

2,103,754 4,994,319 1,013,959 8,112,032

266,100 3,113,647 499,999 3,879,746

2,033,018 3,633,782 499,999

■

a 0£

O a. 111

i 435,000 23,381,402 12,277,133 36,093,535 ‘ 42,007,080

507,500 23,361,101 6,125,403 29,994^004 38,106,036

442,968 23,373,444 11,908,802 35,725,214 39,604,960

4,842,575 1,655,639

6,49S,2!4-

2,102,825 1,322,427 3,425,252

4,560,631 1,011,780 5,572,411

2,657,560 1:

NON-CURRENT LIABILITIES Payables Provisions trOTAL NON-CURRENT LIABILITIES 'TOTAL LIABILITIES

27,532 2,292,233 2,319,765 8,817,979

176,523 2,009,334 2,185,857 5,611,109

11,902 1,178,216 1,190,118 6,762,529

83,281 1,056,045 1,139,326 3,796,886

NET ASSETS

33,189,101

32,494,927

32,842,431

32,135,094

MEMBERS' FUNDS Accumulated funds Permanent Investment Funds Building Development Fund Fellowships & Scholarships Fund Special Purpose Funds Asset Revaluation Reserve TOTAL MEMBERS' FUNDS

1,539,715 26,258,827 2,600,000 1,000,000 1,069,406 721,153 33,189,101

1,013,749 26,258,827 2,600,000 1,000,000 1,222,351 400,000 32,494,927

1,193,045 26,258,827 2,600,000 1,000,000 1,069,406 721,153 32,842,431

653,916 26,258,827 2,600,000 1,000,000 1,222,351 400,000 32,135,094

■■.pi W

CURRENT LIABILITIES Payables Provisions ifOtAL CURRENT LIABILITIES

2003

THE COMPANY 2002

NON-CURRENT ASSETS Receivables Other financial assets Property, plant & equipment TOTAL NON-CURRENT ASSETS iis frOTAL ASSETS

CONSOLIDATED 2002

■ i

515,468 23,353,143 5,896,570

< u Z

'129,765, fSTTl 35,931,980 U 14'

1,821,876 835,684

I i

.JI

ANNUAL REPORT 2003

Murdoch Childrens Research Institute and its controlled entities

STATEMENTS OF CASH FLOWS FOR THE YEAR ENDED 31 DECEMBER 2003 CONSOLIDATED

THE COMPANY

2003

2002

2003

CASHFLOWS FROM OPERATING ACTIVITIES

Payments to suppliers and employees

(39,019,832)

(34,673,459)

(28,487,447)

(25,573,505)

Government grants received

28,192,833

11,144,366

22,679,409

6,842,066

Donations received

3,479,393

2,888,713

3,400,368

2,888,713

Other receipts

6,636,071

18,876,175

6,059,787

18,306,093

Interest received

170,010

127,252

128,108

102,098

Patient fees received

4,657,627

3,755,852 , 3,780,225

2:565,465

InET cash PROVIDED BYAUSED IN) OPERAHNG ACTIVITIES

‘

2,118,899 :

CASH FLOWS FROM INVESTING ACTIVITIES Distributions/Interest received

1,641,136

Proceeds on sale of investments

318,982 10,824,052 (9,024,052) (7,892,287)

Redemption of investments Payments for investments Payments for property, plant and equipment

■

1,626,047

1,600,000 (1,476,334) (3,621,675)

318,982 10,824,052 (9,024,052) (7,666,125)

1,500,000 (1,372,775) (3,487,680)

(1,856,873).

(5,547,143)

(1,734,408)

NET INCREASE/(DECREASE) IN CASH HELD

(1,657,203)

262,026

(1,776,918)

831,057

CASH AT BEGINNING OF THE FINANCIAL YEAR

2,839,268

2,577,242

2,533,017

1,701,960

1,182,065

2,839,268

766,099

2,533,017

TcASH at end of THE FINANCIAL YEAR

66 ^ ANNUAL REPORT 2003

50-1

OPERATING REVENUE

45-

40-

35-

30-

25-

=1 2

30-

Q ■ 2

OPERATING EXPENDITURE

20-

<3^

15105 0 -I

1993

1994 1995

20-

15-

nil 1996

25-

■I

105 0 -I

1998 1999

1998 1999 2000 2001

YEAR

1997

I-

e£

O Q.

oc 2002 2003

< U

z < z

u. INCOME - SOURCE OF FUNDS

EXPENSES - APPLICATION OF FUNDS

li;

CLINICAL SERVICES 24%

DEVELOPMENT & FUND RAISING 1 %

DONATIONS 8%

EDUCATION & ETHICS 1 %

ADMINISTRATION 4%

CLINICAL SERVICES 24%

OPERATING & MAINTENANCE 4%

SERVICE LABS 2%

INVESTMENT 4%

RESEARCH GROUPS 64%

OTHER INCOME 16% RESEARCH GRANTS 48%

ANNUAL REPORT 2003

■M

Bi'

^.L ........ ’

li'

k.-

-mm

'. ■> 51*

Tf ■

‘

i««

ISEiB

■:

tp..... ;,'.

,£

r k

m 7^

'13.A

i’'-

"Ifl m

i -

:?'.'■ -q'

■M ■ np

■r:

SSIW

tg-

-Si

mi'

til

■^1

iisfe.

if/-,

latf

.'3

i'.::'Sl

.■>]

siS

«:

■W-

I^Ni\i'-

'pmN

'ail

■t

S"/'

. K;|

li ■./ ■

' '

' 1Sl-i' i

;

A.% A .f

"■ff

1 ;a

ii:d.

'.p

«*

a»"

^’|1-.iBPI|1IrI

:S;SS

S'vS

■[M

i I

I/.' ■

riiSi

'1 j

'>■,■;

=nj

TSf

;■■

•Si

lii

•■?'

•a-S

;. sa

/S'.-a !;i

PUBLICATIONS S i

«!

Ss/-

iii

......

pPiPP^ Km

itm

i»

v---

f r«..

~i.

I PUBLICATIONS 2003 Ackland ML, Michaiczyk A, Varigos G, Catto-Smith AG and Blomeley R. Analysis of zinc transporter (hZnT4) gene expression in a mammary gland disorder leading to reduced zinc secretion into milk. Human Genetics 113: 202-210 (2003) Ackland ML, Newgreen DF, Fridman M, Waltham M, Arvanitis A, Minichiello J, Price JT and Thompson EW. Persistence of N-cadherin but reduction of E-cadherin after EGF-induced epithelio-mesenchymal transition in PMC42LA human breast carcinoma cells. Laboratory Investigations 83: 435-448 (2003) Aksoy H, Dean G, Elian M, Deng HX, Deng G, Juneja T, Storey E, Gardner RJM, Jacobs RL, Laing NG and Siddique T. A4T mutation in the SOD1 gene causing familial amyotrophic lateral sclerosis. Neuroepidemiology 22: 235238 (2003) Al-Hasani K and loannou P. Retrofitting bacterial artificial chromosomes by homologous recombination in BAG vectors for functional studies. Bio Techniques 35: 10541056(2003) Al-Hasani K, Simpfendorfer K, Wardan H, Vadolas J, Zaibak F Villain R and loannou PA. Development of a novel bacterial artificial chromosome cloning system for functional studies. Plasmid 49: 184-187 (2003) Albisetti M, Chan A, Wong D, McCrindle B, Vegh P, Adams M, Dinyari M, Monagle P and Andrew M. Decreased fibrinolytic activity in patients after Kawasaki Disease irrespective of initial clinical severity. Blood Coagulation Fibrinolysis 14(2): 181-186(2003) Aldred MJ, Crawford PJM and Savarirayan R. It's only teeth - are there limits to genetic testing? Clinical Genetics 63: 333-339 (2003) Allen UD, Thomas S, Carapetis JR, Henry S, Wasfy S, Lovgren M, Richardson S and Low DE. Serotypes of respiratory tract isolates of Streptococcus pneumoniae from Jamaican children. International Journal of Infectious Diseases 7: 29-35 (2003) Amor DJ, De Crespigny L and Gardner RJM. Urinary tract defects and chromosomal disorders. In: Flinter F (ed). The Genetics of Renal Disease. Oxford University Press: Oxford (2003) Anderson N, Warfield S, Wells S, Balasingham C and Inder TE. A limited range of quantitative sonographic measures correlate with 3D-MRI cerebral volumes in the premature infant at term. Ultrasound in Medicine (in press) Anderson p Doyle LW and Victorian Infant Collaborative Study Group. Neurobehavioral outcomes of school-aged children born extremely low birth weight or very preterm in the 1990s. Journal of American Medical Association 289: 3264-3272 (2003)

Anderson V. Outcome and management of traumatic brain injury in childhood. In: Wilson B (ed). Neuropsychological Rehabilitation: Theory and Practice. Swets & Zeitlinger: Netherlands (2003) Anderson V. Pediatric head injury. In: Rizzo M & Esiinger P (eds). Principles of behavioural neurology and neuropsychology. Harcourt Health Sciences: Philadelphia (2003) Anderson V and Jacobs R. Frontal lobe damage in children: Interruptions to normal development. In: Nolin P & Laurent JP (eds). Enhance and neuropsychologie: interface entre la recherche et la Clinique. Press de I'universite du Quebec: Montreal (2003) Angker L, Swain M and Kilpatrick N. Micro-mechanical characterisation of the properties of primary tooth dentine. Journal of Dentistry 31: 261-267 (2003) Antoniou M, Harland L, Mustoe X Williams S, Holdstock J, Yague E, Mulcahy T, Griffiths M, Edwards S, loannou PA, Mountain A and Crombie R. Transgenes encompassing dual-promoter CpG islands from the human TBP and HNRPA2B1 loci are resistant to heterochromatin-mediated silencing. Genomics 82: 269-279 (2003) Apicella C, Andrews L, Hodgson S, Fisher S, Lewis C, Solomon E, Tucker K, Friedlander M, Bankier A, Southey M, Hopper J and Venter D. Log odds of carrying an ancestral mutation in BRCAl or BRCA2 for a defined personal and family history in an Ashkenazi Jewish woman (LAMBDA). Breast Cancer Research 5(6): 206-216 (2003) Arenas J, Briem E, Dahl H, Hutchison W, Lewis S, Martin MA, Spelbrink H, Jacobs H and Zeviani M. The V368I mutation in Twinkle does not segregate with autosomal dominant progressive external ophthalmoplegia (adPEO). Annals of Neurology 53: 278 (2003) Arpornmaeklong P Heggie AA and Shand JM. A comparison of the stability of single-piece and segmental Le Fort I maxillary advancements. Journal of Craniofacial Surgery 14: 3-9(2003) Arpornmaeklong P Shand JM and Heggie AA. Stability of combined Le Fort I maxillary advancement and mandibular reduction. Australian Orthodontic Journal 19: 57-66 (2003) Bache CE, Selber P and Graham HK, The management of spastic diplegia. Current Orthopaedics 17: 88-104 (2003)

Barlow-Stewart K and Gaff CL. Working in partnership with support sen/ices in the era of the "new genetics". Medical Journal of Australia 178: 515-519(2003)

Blumer C, Roche P, Kirkwood CD, Bishop RF and Barnes GL. Surveillance of viral pathogens in Australia: Rotavirus. Communicable Diseases Intelligence 27: 496-502 (2003)

Barnes C, Monagle P and McNamara J. Velcroholism. Journal of Paediatrics and Child Health 39(5): 392 (2003)

Blutt SE, Kirkwood CD, Pareno V, Warfield KL, Ciarlet M, Estes MK, Bok K, Bishop RF and Conner ME. Rotavirus antigenaemia and viraemia: a common event? Lancet 362: 1445-1449(2003)

Barnes GL, Callaghan SL, Kirkwood CD, Bogdanovic-Sakran N, Johnston U and Bishop RF. Excretion of serotype G1 rotavirus strains by asymptomatic staff: a possible source of nosocomial Infection. Journal of Pediatrics 142: 722-725 (2003) Barnes GL, Srivastava A, Carlin JB and Francis IF. Delta-F508 CF mutation is not linked to intussusception: implications for rotavirus vaccine. Journal of Paediatrics and Child Health 39: 516-517 (2003) Batch JA, Couper JJ, Rodda C, Cowell CT and Zacharin M. Use of bisphosphonate therapy for osteoporosis in childhood and adolescence - a position paper of the Australian Paediatric Endocrine Group. Journal of Paediatrics and Child Health 39: 88-92 (2003) Bateman JF Freddi S, Nattrass GR and Savarirayan R. Tissuespecific mRNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage. Human Molecular Genetics 12:217-225 (2003) Bates D, Taylor Gl, Minichiello J, Farlie PG, Cichowitz A, Watson NF Klagsbrun M, Mamiuk R and Newgreen DF. Neurovascular congruence results from a shared patterning mechanism that utilizes Semaphorin3A. Developmental Biology 255: 77-98 (2003) Bayer J and Sanson A. Preventing the development of emotional mental health problems from early childhood: recent advances in the field. The International Journal of Mental Health Promotion 5(3): 4-16 (2003) BenA/eck S, Graham HK and Heinen F. Spasticity in Children. In: Moore P and Naumann M (eds). Handbook of Botulinum Toxin Treatment. Blackwell Science: Oxford (2003) Beyers JM, Toumbourou JW, Catalano RF, Arthur MW and Hawkins JD. A cross-national comparison of risk and protective factors for adolescent substance use. Journal of Adolescent Health (in press)

Badea L, Doughty S, Nicholls L, Sloan J, Robins-Browne RM and Hartland EL. Contribution of Efal/LifA to adherence of enteropathogenic Escherichia coli to epithelial cells. Microbial Pathogenesis 34: 205-215 (2003)

Bigham AK, Munro TA, Rizzacasa MA and Robins-Browne RM. Divinatorins A-C, new neoclerodane diterpenoids from the controlled sage Salvia divinorum. Journal of Natural Products 66: 1242-1244(2003)

Baker B, Gibbons S and Woods M. Intra-alveolar distraction osteogenesis in preparation for dental implant placement combined with orthodonticZorthognathic surgical treatment: a case report. Australian Dental Journal 48(1): 65-68 (2003)

Birkett D, Catto-Smith AG, Cosh D, Crotty B, Dammery D, Desmond P King S, Leggett B, Liddle C, Pavli P Reeve J, Wilson A and Yeomans N. Gastrointestinal Drug Guidelines. Gastrointestinal Drug Guidelines Sub-Committee (eds). Therapeutic Guidelines Ltd: Melbourne (2003)

I/)

Boland R, Joyce BJ, Wallace MJ, Stanton H, Fosang AJ, Pierce RA, Harding R and Hooper SB. Cortisol enhances structural maturation of the hypoplastic fetal lung in sheep. Journal of Physiology 15: 505-517 (2003)

D i/> IIJ

Bonomo Y. Adolescent alcohol and other substance use: sharing the Australian experience. Annals of Academy of Medicine Singapore 32: 29-35 (2003)

Booth ML, Chey T, Wake M, Norton K, Hesketh K, Dollman J and Robertson I. Change in prevalence of overweight and obesity among young Australians, 1969-1997. American Journal of Clinical Nutrition 77(1): 29-36 (2003) Boyle R and Savulescu J. Prenatal diagnosis for 'minor' genetic abnormalities is ethical. American Journal of Bioethics 3(1):W-IF 3 (2003) Brener L, Vallino-Napoli LD, Reid J and Reilly S. Accessing the evidence to treat the dysphagic patient: Can we get it? Is there time? Asia Pacific Journal of Speech, Language and Hearing 8(1): 36-43 (2003) Bretherton L and Holmes V. The relationship between auditory temporal processing, phonemic awareness and reading disability. Journal of Experimental Child Psychology 84(3): 218-243 (2003) Buckland L, Austin N, Jackson A and Inder T. Excessive exposure of sick neonates to sound during transport. Archives of Disease in Childhood 88(6): F513-516 (2003) Burdon K, McKay J, Sale M, Russell-Eggitt I, Mackey D, Wirth M, Elder J, Nicoll A, Clarke M, FitzGerald L, Stankovich J, Shaw M, Sharma S, Gajovic S, Gruss P, Ross S, Thomas R Voss A, Thomas X Gecz J and Craig J. Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan Syndrome including severe congenital cataract, dental anomalies and mental retardation. American Journal of Human Genetics 76: 1120-1130 (2003) Button BM, Heine RG, Catto-Smith AG, Glinsky A, Phelan PD, Ditchfield MR and Story I. Chest physiotherapy in infants with cystic fibrosis: to tip or not? A five-year study. Pediatric Pulmonology 35: 208-213 (2003) Button BM, Heine RG, Catto-Smith AG, Phelan PD and Glinsky A. Chest physiotherapy, reflux and arousal in CF. Archives of Disease in Childhood (in press)

ANNUAL REPORT 2003

Callaghan S, Hughan J and Johnston L The use of a nasogastric tube for rehydration therapy in the dehydrated paediatric patient with gastroenteritis. A clinical audit of adverse events associated with its use. Neonatal, Paediatric and Child Health Nursing 6: 13-17 (2003) Cameron C and Williamson R. In the world of Dolly, when does a Human Embryo Acquire Respect? Journal of Medical Ethics (in press) Cameron FJ, Smidts D, Hesketh K, Wake M and Northam E. Early detection of emotional and behavioural problems in children with diabetes: the validity of the Child Health Questionnaire as a screening instrument. Diabetic Medicine 20: 646-650 (2003) Cameron FJ and Smith C. In: Balen A (eds). The Multidisciplinary Approach to the management of Paediatric and Adolescent Gynaecology. Cambridge University Press (2003) Cameron FJ. The impact of diabetes upon health-related quality of life in children and adolescents. Pediatric Diabetes 4: 132-136 (2003) Cameron FJ and Ambler GR. Does continuous glucose monitoring have clinical utility in contemporary management of diabetes? Journal of Paediatrics and Child Health (in press) Campain AC, Morgan MV, Evans RW, Ugoni A, Adams GG, Conn JA and Watson MJ. Sugar-starch combinations in food and the relationship to dental caries in low-risk adolescents. European Journal of Oral Science 111:316325 (2003) Carlin JB and Doyle LW. Statistics for clinicians: nonparmetric methods for continuous or ordered data. Journal of Paediatrics and Child Health 39: 309-311 (2003) Carlin JB, Li N and Coffey C. Tools for analyzing multiple imputed datasets. The Stata Journal 3: 226-244 (2003) Cass H, Reilly S, Owen L, Wisbeach A, Weeks L, Slonims V, Wigram T and Charman T. Findings from a multi disciplinary clinical case series of girls and women with Rett syndrome: physical characteristics. Developmental Medicine and Child Neurology 45: 325-332 (2003) Catroppa C and Anderson V. Children's sustained attention skills two years post-TBI. Developmental Neuropsychology 23(3): 359-373 (2003) Catroppa C and Anderson V. Recovery and predictors of intellectual ability two years following pediatric brain injury. Neuropsychological Rehabilitation 13(5): 517-536 (2003) Catto-Smith AG and Ranuh R. Abdominal pain and cyclical vomiting. Seminars in Pediatric Surgery 12: 254-258 (2003) Chabria D, Weintraub RG and Kilpatrick N. Mechanisms and management of gingival overgrowth in paediatric transplant recipients: a review. International Journal of Paediatric Dentistry 13: 220-229 (2003)

70 ^ ANNUAL REPORT 2003

Chalkiadis G. The rise and fall of continuous epidural infusions in children. Paediatric Anaesthesia 13: 91-93 (2003) Chan SWL and Choo KHA. Nucleic Acid Hybridisation. Encyclopedia of The Human Genome. Nature Publishing Group (in press) Chang AB, Phelan PD, Robertson CF, Roberts RGD and Sawyer SM. Relationship between measurements of cough severity. Archives of Disease in Childhood 88: 57-60 (2003) Chang SW, Plotkin D, Mah J, Polido J and Meara JG. Teledentistry in rural California: a USC initiative. Journal of the California Dental Association 31(8): 601-608 (2003)

Craig JM, Earle E, Canham P, Wong LH, Anderson A and Choo KHA. Analysis of mammalian proteins involved in chromatin modification reveals new metaphase centromeric proteins and distinct chromosomal distribution patterns. Human Molecular Genetics 12: 3109-3121 (2003) Craig JM, Wong LH, Lo AW, Earle E and Choo KHA. Centromeric chromatin pliability and memory at a human neocentromere. The EMBO Journal 22: 2495-2504 (2003) Crawford PJM, Aldred MJ and Savarirayan R. Amelogenesis imperfecta - a classification and catalogue for the 21st century. Oral Diseases 9: 19-23 (2003)

Crellin D and Johnston L. Poor agreement in application of ■ the Australasian Triage Scale to paediatric emergency Cheung KM, Oliver MR, Cameron DJS, Catto-Smith AG and department presentations. Contemporary Nurse 15: 48-60 Chow CW. Eosinophilic esophagitis in children with (2003) dysphagia. Journal of Pediatric Gastroenterology and Nutrition 37: 498-503 (2003) Crock C, Olsson C, Phillips R, Chalkiadis G, Sawyer SM, Ashley D, Camilleri S, Carlin J and Monagle R General Cheung MM, Davis AM, Wilkinson JL and Weintraub RG. anaesthesia or conscious sedation for painful procedures in Long term somatic growth after repair of tetralogy of childhood cancer: the family's perspective. Archives of Fallot: evidence for restoration of genetic growth potential. Disease in Childhood 88: 253-257 (2003) Heart 89: 1340-1343 (2003) Cui JS, Spundle AB, Southey MC, Dite GS, Venter DJ, Chin TYP and Graham HK. Botulinum toxin A in the McCredie MRE, Giles GG, Chenevix-Trench G and Hopper management of upper limb spasticity in cerebral palsy. JL. Regressive logistic and proportional hazards disease Hand Clinics 19: 591-600(2003) models for within-family analyses of measured genotypes, with application to a CYP17 polymorphism and breast Choo KHA. Chromosome beauty. Cell 114: 17-19 (2003) cancer. Genetic Epidemiology 24: 161-172 (2003) Choo KHA. David M Danks Obituary. American Journal of Human Genetics 73: 981-985 (2003) Cleary M, Paris MCJ, Shaw J and Trounson A. Effect of ovariectomy and graft position on cryopreserved common wombat (Vombatus ursinus) ovarian tissue following xenografting to nude mice. Reproduction Fertility and Development 15(6): 333-342 (2003) Coffey C, Carlin JB, Lynskey M, Ning L and Patton G. Adolescent precursors of cannabis dependence: findings from the Victorian Adolescent Health Cohort Study. British Journal of Psychiatry 182: 330-336 (2003) Coffey C, Veit F, Wolfe R, Cini E and Patton GC. Mortality in young offenders: retrospective cohort study. British Medical Journal 326: 1064-1067 (2003) Coghlan D, Kiing JSH and Wake M. Parents' Evaluation of Developmental Status in the Australian day-care setting: developmental concerns of parents and carers. Journal of Paediatrics and Child Health 39: 49-54 (2003) Collins V, Halliday J and Williamson R. What predicts the use of genetic counselling services after the birth of a child with Down syndrome? Journal of Genetic Counselling 12 (1): 43-60 (2003) Collins V and Williamson R. Providing services for families with a genetic condition: a contrast between cystic fibrosis and Down syndrome. Pediatrics 112: 1177-1180 (2003)

Curtis N, Carapetis JR and Starr M. Infectious Diseases. In: Paxton G, Munro J, Wilkinson D and Marks M (eds). Paediatric Handbook. Blackwell Science: Melbourne (2003) Curtis N, Duke T, Fuller D and Shann F. Return of Haemophilus influenzae type b infections. The Lancet 361(9368): 1564(2003) Dahl HHM. Genetics of hearing loss. Today's Life Sciences July/August: 28-31 (2003) Dahl HHM, Wake M, Sarant J, Poulakis Z, Siemering K and Blarney P. Language and speech perception outcomes in hearing-impaired children with and without connexin 26 mutations. Audiology and Neuro-Otology 8(5): 263-268 (2003) Daniel A, Athayde N, Ogle R, George AM, Michael J, Fertile MD, Bryan J, Jammu V and Trudinger BJ. Prospective ranking of the sonographic markers for aneuplody: data of 2143 prenatal cytogenetic diagnoses referred for abnormalities on ultrasound. Australian and New Zealand Journal of Obstetrics and Gynaecology 43(1): 16-26 (2003) David E, Anderson-Weller K, Fong LV and Menahem S. Maternal infant bonding enhanced by a trial seplostomy in neonates in a general hospital. Early Human Development 71:9-17 (2003) Davidson AJ. Depth of anaesthesia monitors in paediatric anaesthesia. In: John Keneally (ed). Australasian Anaesthesia 2003. Australian and New Zealand College of Anaesthetists (2003)

Davidson N, King J, Riley M and Halliday J. Influence of pregnancy termination for birth defects on the perinatal mortality rate. Paediatric and Perinatal Epidemiology (in press) Davies MW and Davis PG. Nebulized racemic epinephrine for extubation of newborn infants. Cochrane Database of Systematic Reviews 1 CD000506 (2003) De Paoli AG, Dargaville PA, O'Donnell CP, Casaiaz DM, Taylor RG, Coombs CJ and Morley CJ. Embolization of cannula fragments during insertion of central catheters. Journal of Pediatrics 143(5): 690-691 (2003) De Paoii AG, Morley CJ and Davis PG. Nasal CRAP for neonates: what do we know in 2002? Archives of Disease in Childhood 88(3): FI 68-172 (2003) De Silva MG, Elliott KS, Dahl HHM, Fitzpatrick E, Wilcox S, Delatycki MB, Williamson R, Efron D, Lynch M and Forrest SM. Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype. Journal of Medical Genetics 40: 733-740 (2003) Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP Ballana E, Wuyts W, MacielGuerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HHM, Estivill X, Gasparini P Hutchin T, Nance WE, Sartorato EL, Smith RJH, Van Camp G, Avraham KB, Petit C and Moreno F. Evolutionary origins of the del(GJB6D1351830) mutation in the DFNB1 locus in hearing impaired subjerts: a multicenter study. American Journal of Human Genetics 73: 1452-1458 (2003) Delatycki MB. Commentary on Spriggs: genetically selected baby free of inherited predisposition to early onset Alzheimer's disease. Journal of Medical Ethics 29: 120 (2003) Delatycki MB, Danks A, Churchyard A, Zhou XP and Eng C. De novo germline PTEN mutation in a man with LhermitteDuclos disease which arose on a paternal chromosome and was transmitted to his child with polydactyly and Wormian bones. Journal of Medical Genetics 40(8): e92 (2003) De Luca CR, Wood SJ, Anderson V, Buchanan JA, Profitt TM, Mahoney K and Pantelis C. Normative data from the CANTAB. I: development of executive function over the lifespan. Journal of Clinical and Experimental Neuropsychology 25(2): 242-254 (2003) Diaz-Meyer N, Day C, Khatod K, Maher E, Cooper W, Reik W, Junien C, Graham G, Algar E, Der Kaloustian V and Higgins M. Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMRI in Beckwith-Wiedemann syndrome. Journal of Medical Genetics 40: 797-801 (2003) Dieu T, Leung M, Leong J, Cleland H, Archer B and Oppy A. Too much vacuum-assisted closure. Australian and New Zealand Journal of surgery 73(12): 1057-1060 (2003)

Dinkla K, Rohde M, Jansen WTM, Carapetis JR, Chhatwal GS and Talay SR. Streptococcus pyogenes recruits collagen via surface bound fibronectin: a novel colonization and immune evasion mechanism. Molecular Microbiology 47: 861-869(2003) Dite GS, Jenkins MA, Southey MC, Hocking JS, Giles GG, McCredie MRE, Venter DJ and Hopper JL. Familial risks, early-onset breast cancer, and BRCAIand BRCA2 germline mutations. Journal National Cancer Institute 95: 448-457 (2003) Dodd KJ, Taylor NF and Graham HK. A randomized clinical trial of strength training in young people with cerebral palsy. Developmental Medicine and Child Neurology 45: 652-657 (2003) Doyle J, Waters E and Jackson N. New developments for effectiveness systematic reviews in health promotion: Cochrane Health Promotion and Public Health Field. Promotion and Education 10(3): 118-119 (2003) Duke T, Curtis N and Fuller DG. The management of bacterial meningitis in children. Expert Opinion in Pharmacotherapy 4: 1227-1240 (2003) Edmondson SR, Thumiger SP, Werther GA and Wraight CJ. Epidermal homeostasis: the role of the GH and IGF systems. Endocrine Reviews 24: 737-764 (2003) Efron D. Psychotropic Prescribing Patterns. In: Nunn K and Day C (eds). The Clinician's Guide to Psychotropic Prescribing in Children and Adolescents. CAMHSNET (2003) Efron D, Davey M and Reilly S. Behavioural, developmental and sleep problems. In: Paediatric Handbook. Blackwell Publishing Asia (in press) Efron D, Delatycki MB, De Silva MG, Langbein A, Slaghuis W, Larson A, Dahl HHM and Forrest SM. A novel pericentric inversion of chromosome 3 co-segregates with a developmental-behavioural phenotype. Journal of Medical Genetics 40(2): el5 (2003) Efron D, Hiscock H, Sewell J, Cranswick NE, Vance A and Luk E. The prescribing of psychotropic medications for children by Australian paediatricians and child psychiatrists. Pediatrics 111(2): 372-375 (2003) Efron D and Oberklaid F. Psychotropic medication for children - the paediatrician's dilemma. Journal of Paediatrics and Child Health 39: 509-510 (2003) Efron D, South M and Inder T. Cerebral injury in association with profound iatrogenic hyperglycaemia in a neonate. European Journal of Paediatric Neurology 7: 167-171 (2003) Eldridge B, Galea M, McCoy A, Wolfe R and Graham HK. Uptime normative values in children aged 8 to 15 years. Developmental Medicine and Child Neurology 45: 189-193 (2003)

Eldridge B, KImber C, Wolfe R, Galea M and Hutson JM. Uptime as a measure of recovery in children postappendectomy. Journal of Pediatric Endocrinology and Metabolism 38(12); 1822-1825 (2003)

Goldfeld S, Wright M and Oberklaid F. Parents, infants and health care: utilisation of health service in the first 12 months of life. Journal of Paediatrics and Child Health 39: 249-253 (2003)

Heggie AA, Shand JM, Aldred MJ and Talacko AA. Juvenile mandibular chronic osteomyelitis: a distinct clinical entity. International Journal of Oral and Maxillofacial Surgery 32: 459-468 (2003)

Eldridge B, McCoy A, Galea M, Wolfe R and Graham HK. Variability in the measurement of uptime in children: a preliminary study. Clinical Rehabilitation 17: 499-503 (2003)

Gooding TM, Kemp AS, Robins-Browne RM, Smith M and Johnson PDR. Acquired T-heiper 1 lymphocyte energy following infection with Mycobacterium ulcerans. Clinical Infectious Diseases 36: 1076-1077 (2003)

Heine RG, Hosking CS and Hill DJ. Risk factors for atopic dermatitis in infancy: are we closer to effective primary atopy prevention? Clinical and Experimental Allergy 33: 1327-1329 (2003)

Graham HK, Boyd RN and Fehlings D. Does intramuscular botulinum toxin A injection improve upper-limb function in children with hemiplegic cerebral palsy? Medical Journal of Australia 178 (2): 95-96 (2003)

Hennel SJ, Ekert PG, Voipe JJ and Inder TE. Insights into the pathogenesis of cerebral lesions in incontinentia pigment!. Pediatric Neurology 29: 148-150 (2003)

Evans-Whipp T, Beyers JM, Lloyd S, LaFazia AN, Toumbourou JW, Arthur MW and Catalano RE. A review of school drug policies and their impact on youth substance use. Health Promotion International (in press) Fitzgerald J and Bateman JF. Is there an evolutionary relationship between WARP (von Willebrand factor Adomain related protein) and the FACIT and FACIT-like collagens? Federation of European Biochemical Societies Letters 552: 91-94 (2003) Fosang AL, Galea MP, McCoy AT, Reddihough DS and Story 1. Measures of muscle and joint performance in the lower limb of children with cerebral palsy. Developmental Medicine and Child Neurology 45: 664-670 (2003)

Graham HK and Selber P. Musculoskeletal aspects of cerebral palsy. Journal of Bone and Joint Surgery 85: 157166(2003) Green JB, Duncan RE, Barnes GL and Oberklaid F. Putting the 'informed' into 'consent': A matter of plain language. Journal of Paediatrics and Child Health 39: 700-703 (2003)

Fosang AJ, Stanton H, Little CB and Atley LM. Neoepitopes as biomarkers of cartilage catabolism. Inflammation Research 52: 277-282 (2003)

Green J, Waters E, Haikerwal A, O'Neill C, Raman S, Booth ML and Gibbons K. Social, cultural and environmental influences on child activity and eating in Australian migrant communities. Child: Care, Health and Development 29(6): 441-448 (2003)

Freeman JL, Zacharin M, Rosenfeld JV and Harvey AS. The endocrinology of hypothalamic hamartoma surgery for intractable epilepsy. Epileptic Disorders 5: 239-247 (2003)

Greenway A and Zacharin M. Vitamin D status of chronically III or disabled children in Victoria. Journal of Paediatrics and Child Health 39(7): 543-547 (2003)

Frey B and Shann F. Oxygen administration in infants. Archives of Disease in Childhood 88: 84-88 (2003)

Gregg ME and Toumbourou JW. Sibling peer support group for young people with a sibling using drugs: a pilot study. Journal of Psychoactive Drugs 35: 311-319 (2003)

Gason AA, Sheffield E, Bankier A, Aitken MA, Metcalfe S, Barlow-Stewart K and Delatycki MB. Evaluation of a TaySachs disease screening program. Clinical Genetics 68: 386392 (2003)

Guy RJ, Andrews RM, Robinson PM and Lambert SB. Mumps and rubella surveillance in Victoria, 1993 to 2000. Communicable Diseases Intelligence 27: 94-99 (2003)

Gauld LM, Kappers J, Carlin JB and Robertson CF. Prediction of childhood pulmonary function using ulna length. American Journal of Respiratory Disease and Critical Care Medicine 169: 804-809 (2003)

Happen B, Johnston L and Hill C. implementing research findings into mental health nursing practice: exploring the clinical research fellowship approach. International Journal of Mental Health Nursing 12: 251-258 (2003)

Giannakis G, Edmondson SR, Favaloro JM, Zajac JD and Greenland KJ. Aberrant cryptic responsiveness of the pCAT(r)3- and pGL3-promoter reporter vectors. Bio Techniques 35(2): 332-339 (2003)

Happen B, Johnston L and Pinikahana J. Nursing Research in Victoria. A snapshot of current policy. Australian Journal of Advanced Nursing 20: 8-14 (2003)

Gibney KB, Morris PS, Carapetis JR, Skull SA and Leach AJ. Missed opportunities for a diagnosis of acute otitis media in Aboriginal children admitted to Royal Darwin Hospital. Journal of Paediatrics and Child Health 39: 540-542 (2003) Gilbertson HR, Thorburn AW, Brand-Miller JC, Chondros P and Werther GA. Effect of low glycemic index dietary advice on dietary quality and food choice in children with type 1 diabetes. American Journal of Clinical Nutrition 77(1): 83-90 (2003) Golden NH, Katzman DK, Kreipe RE, Stevens SL, Sawyer SM, Rees J, Nicholls D and Rome ES. Eating disorders in adolescents: position paper of the Society for Adolescent Medicine. Journal of Adolescent Health 33: 496-503 (2003)

Harrison D, Johnston L and Loughnan P. Research in a vulnerable population: issues of obtaining informed parental consent. Neonatal, Paediatric and Child Health Nursing 6: 18-23 (2003) Harrison D, Johnston L and Loughnan P. Oral sucrose for procedural pain in sick hospitalized infants; A randomizedcontrolled trial. Journal of Paediatrics and Child Health 39: 591-597 (2003) Heggie AA. Orthognathic surgery: an integrated approach to the management of oro-facial deformity,. International Journal of Oral and Maxillofacial Surgery 32(Supp2): 10-12 (2003)

I (/)

Hildebrand MS, De Silva MG, Klockars T, Rose E, Price M, Smith RGH, McGuirt WT, Christopoulos H, Petit C and Dahl HHM. Characterization of DRASIC in the mouse inner ear. Hearing Research (in press)

D to lu Of

Hill DJ, Hosking CS and Heine RG. Infantile colic and food hypersensitivity. In: Metcalfe DD, Sampson HA and Simon RA (eds). Food Allergy: Adverse Reactions to Foods and Food Additives. Blackwell Publishing (2003)

a D

Hill V, Sahhar M, Aitken MA, Savarirayan R and Metcalfe S. Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature. American Journal of Medical Genetics 122A: 100-107 (2003) Hills LV, Nouri S and Slater HR. Pericentromeric euchromatin is conserved in minute human supernumerary chromosomes: A study using cross-species colour segmenting (RxFISH). Chromosome Research 11: 359-363 (2003) Hofer SO, Knight KM, Cooper-White JJ, O'Connor AJ, Perera JM, Romeo-Meeuw R, Penington AJ, Knight KR, Morrison WA and Messina A. Increasing the volume of vascularised tissue formation in engineered constructs: an experimental study in rats. Plastic and Reconstructive Surgery 111 (3): 1186-1192 (2003) Hogan L, Shand JM, Heggie AA and Kilpatrick N. Canine eruption into grafted alveolar clefts: A retrospective study. Australian Dental Journal 48: 119-124 (2003) Hope X Savulescu J and Hendrick J. Medical Ethics and Law. In: The Core Curriculum. Churchill Livingstone: London (2003) Horak E, Bodner J, Gassner I, Schmid T, Simma B, GrassI G and Sawyer SM. Congenital cystic lung disease: diagnostic and therapeutic considerations. Clinical Pediatrics 42: 251261 (2003) Horak E, Lanigan A, Roberts M, Welsh L, Wilson J, Carlin JB, Olinsky A and Robertson CF. Longitudinal study of childhood wheezy bronchitis and asthma: outcome at age 42. British Medical Journal 326: 422-423 (2003) Hunt RW, Kean MJ, Stewart MJ and Inder TE. Cerebral Injury in a case series of infants with congenital diaphragmatic herniae utilizing magnetic resonance imaging. Journal of Pediatric Endocrinology and Metabolism (in press)

ANNUAL REPORT 2003

Hunt RW, Warfield SK, Wang H, Keane M, Voipe JJ and Inder TE. Assessment of the impact of the removal of cerebrospinal fluid on cerebral tissue columes by advanced volumetric 3DMRI in post-hemorrhagic hydrocephalus in a premature infant. Journal of Neurology, Neurosurgery and Psychiatry 74(5): 658-660 (2003)

Jaques AM, Bell R, Watson L and Halliday J. People who influence women's decisions and preferred sources of information about prenatal testing for birth defects. Australian and New Zealand Journal of Obstetrics and Gynaecology (in press) Joffe B and Reilly S. The evidence base for paediatric motor speech disorders. In: Reilly S, Douglas J and Oates J (eds). Evidence Based Practice in Speech Pathology. Whurr Publishers: London (2003)

Kirkwood CD and Buttery J. Rotavirus vaccines - an update. Expert Opinion in Biological Therapies 3: 97-105 (2003) Klockars T, Perheentupa T and Dahl HHM. In silico analyses of the mouse inner ear gene pool. Journal of the Association for Research in Otolaryngology 4: 24-40 (2003)

Hyland VJ, Robertson SP, Flanagan S, Savarirayan R, Roscioli X Masel J, Hasyes M and Glass lA. Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. American Journal of Medical Genetics 120A; 157-168 (2003)

Johnston L. Evidence in Practice: What is Evidenced Based Nursing? EB Nursing (Japan) 3: 6-15 (2003)

Knight MA, Kennerson ML, Anney RJL, Nicholson GA, Salimi-Tari P, Gardner RJM, Storey E and Forrest SM. A new autosomal dominant pure cerebellar ataxia, SCA15, maps to 3p24.2-3pter: exclusion of the ITPRl gene, the human orthologue of an ataxic mouse mutant. Neurobiology of Disease 13: 147-157 (2003)

Hynson JL, Gillis J, Collins JJ, Irving H and Trethewie SJ. The dying child: how is care different? Medical Journal of Australia 179: S20-22 (2003)

Johnston L. Implementing EBN in practice: How to make good use of evidence in daily clinical practice. EB Nursing (Japan) 3: 86-89 (2003)

Lam P, Hiscock H and Wake M. Outcome of infant sleep problems: a longitudinal study of sleep, behaviour and maternal well-being. Pediatrics 111: 203-207 (2003)

Inder TE, Anderson NJ, Spencer C, Wells S and Voipe JJ. Cranial ultrasonography is a poor predictor of MRI defined white matter injury in the premature infant. American Journal of Neuroradiology 24: 805-809 (2003)

Johnston L. Using evidence in daily clinical practice. Neonatal, Paediatric and Child Health Nursing 6: 21-24 (2003)

Lam PY, Yeo M and Sawyer SM. Adolescent admissions to a tertiary paediatric hospital: a dynamic pattern. Annals of Academy of Medicine Singapore 32: 58-63 (2003)

Johnstone BR, Richardson PW, Coombs CJ and Duncan JA. Functional and cosmetic outcome of surgery for cerebral palsy in the upper limb. Hand Clinics 19(4): 679-686 (2003)

Landman KA, Pettet GJ and Newgreen DF. Chemotactic cellular migration: smooth travelling wave solutions. SIAM Journal on Applied Mathematics 63: 1666-1681 (2003)

Jorm A, Prior M, Sanson A, Smart D, Zhang Y and Easteal S. Apolipoprotein E genotype and temperament: a longitudinal study from infancy to the late teens. Psychosomatic Medicine 65: 662-664 (2003)

Landman KA, Pettet GJ and Newgreen DF. Mathematicai models of cell migration in growing domains. Bulletin of Mathematical Biology 65: 235-262 (2003)

Inder TE, Buckland L, Williams CE, Spencer C, Gunning Ml, Darlow B, Voipe JJ and Gluckman PD. Lowered cortical spectral edge frequency predicts the presence of white matter injury in premature infants. Pediatrics 111: 27-33 (2003) Inder TE and Voipe JJ. Pathophysiology of intraventricular hemorrhage in the neonate. In: Polin, Pox and Abman (eds). Fetal and Neonatal Physiology. WB Saunders (in press) Inder TE, Wells S, Mogridge N, Spencer C and Voipe JJ. Defining the nature of the cerebral abnormalities in the premature infant - a qualitative magnetic resonance imaging study. Journal of Pediatrics 143: 171-179 (2003) James PA, Shaw J, Du Sart D, Craig E, Bateman JF and Savarirayan R. Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia. Prenatal Diagnosis 23: 861-863 (2003) Jamsai D, Nefedov M, Orford M, Fucharoen S, Williamson R and loannou PA. Insertion of common mutations into the human beta-globin locus using GET recombination and an EcoRI endonuclease counterselection cassette. Journal of Biotechnology 101: 1-9(2003) Jamsai D, Orford M, Fucharoen S, Williamson R and loannou PA. Insertion of modifications in the beta-globin locus using GET Recombination with single-stranded oligonucleotides and denatured PCR fragments. Molecular Biotechnology 23: 29-36 (2003) Jamsai D, Orford M, Nefedov M, Fucharoen S, Williamson R and loannou PA. Targeted modification of a human betagiobin locus BAC clone using GET Recombination and an IScel counterselection cassette. Genomics 82: 68-77 (2003) Janssens K, Thompson EM, Van Hoenacker F, Savarirayan R, Dobbie A and Hui W. A case of craniodiaphyseal dysplasia with a mild phenotype. Clinical Dysmorphology 12: 245250 (2003)

72 ^ ANNUAL REPORT 2003

Jose MV and Bishop RF. Scaling properties and symmetrical patterns in the epidemiology of rotavirus infection. Philosophicai Transactions of the Royal Society of London, Series B 358: 1625-1641 (2003) Kalitsis P, Fowler KJ, Earle E, Griffiths B, Howman E, Newson AJ and Choo KHA. Partially functional Cenpa-GFP fusion protein causes increased chromosome missegregation and apoptosis during mouse embryogenesis. Chromosome Research 11: 345-357 (2003)

Lappin K, Kealey D, Cosgrove A and Graham HK. Does low birthweight predispose to Perthes' disease? Perthes' disease in twins. Journal of Pediatric Orthopaedics 12: 307-310 (2003) Lemyre B, Davis PG and De Paoli AG. Nasal intermittent positive pressure ventilation (NIPPV) versus nasal continuous positive airway pressure (NCPAP) for apnea of prematurity. Cochrane Database of Systematic Reviews 1 CD002272 (2003)

Kanumakala S, Warne GL and Zacharin M. Evolving hypopituitarism after cranial irradiation. Journal of Pediatric Endocrinology and Metabolism 39: 232-235 (2003)

Lepore DA. Detection and measurement of nitric oxide synthase-independent generation of nitric oxide. In: Cadenas E and Packer L (eds). Methods in Enzymology, Part D. Academic Press (2003)

Kirby DM, Boneh A, Chow CW, Ohtake A, Ryan MT, Thyagarajan D and Thorburn DR. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh disease. Annals of Neurology 54: 473-478 (2003)

Lerman J, Nolan J and Eyres R. Efficacy, safety and pharmacokinetics of levobupivacaine with and without Fentanyi after continuous epidural infusion in children. Anesthesia 99: 1166-1174 (2003)

Kirkwood CD, Bogdanovic-Sakran N, Clark R, Bishop RE and Barnes GL. Report of the Australian Rotavirus Surveillance Program 2002 - 2003. Communicable Diseases Intelligence 27: 492-495 (2003)

Leung PHM, Peiris JSM, Ng WWS, Robins-Browne RM, Bettelheim KA and Yam WC. A newly discovered verotoxin variant, VT2g, produced by bovine verocytotoxigenic Escherichia coli. Applied and Environmentai Microbiology 69: 7549-7553 (2003)

Kirkwood CD, Bogdanovic-Sakran N, Palombo E, Masendycz P, Bugg H, Barnes GL and Bishop R. Genetic and antigenic characterisation of rotavirus serotype 9 strains isolated in Australia between 1997-2000. Journal of Clinical Microbiology 41: 3649-3654 (2003)

Liamputtong P, Halliday J, McDonald G, Warren R, Watson L and Bell R. Why do women decline prenatal screening and diagnosis? Australian women's perspective. Women and Health 37: 89-108(2003)

Lobb EA, Butow PN, Meiser B, Barratt A, Gaff C, Young MA, Haan E, Suthers GK, Gattas M and Tucker K. The influence of consultant's communication and information giving behaviours on patient outcomes: a multi centre study of genetic counselling with women from high risk breast cancer families. Journal of Medical Genetics 40: e56 (2003) Low Y Hutson JM and MCRI Sex Study Group. Rules for clinical diagnosis in babies with ambiguous genitalia. Journal of Paediatrics and Child Health 39: 406-413 (2003) Lynch EL, Doherty RJ, Gaff CL, Macrae FA and Lindeman GJ. 'Cancer in the family' and genetic testing: implications for insurance. Medical Journal of Australia 179: 480-483 (2003) Lynskey MT, Coffey C, Degenhardt L, Carlin JB and Patton G. A longitudinal study of the effects of adolescent cannabis use on high school completion. Addiction 98: 685-692 (2003) Macisaac CM, Curtis N, Cade J and Visvanathan K. Rapid Analysis of the VE repertoire of CD4 and CDS T lymphocytes in whole blood. Journal of Immunological Methods 283: 9-15 (2003) Maher E, Waters E, Wake M, Goldfeld 5, Williams J and Oberklaid R A review of epidemiological studies on children's health and wellbeing. Australasian Epidemiologist 10(2): 4-8 (2003) Mahoney E, Beattie J, Swain M and Kilpatrick N. Preliminary in vitro assessment of erosive potential using the ultra micro-indentation system. Caries Research 37: 218-224 (2003) Mahoney E and Kilpatrick N. Dental Erosion: Part 1. Aetiology and prevalence of dental erosion. New Zealand Dental Journal 99: 10-15 (2003) Makitie 0, Savarirayan R, Bonafe L, Superti-Furga A and Cole WG. Recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene-double layered patella as a reliable sign. American Journal of Medical Genetics 122A: 187-192 (2003) Mari M, Castiello U, Marks D, Marraffa C and Prior M. The reach-to-grasp movement in children with Autism Spectrum Disorder. Philosophical Transactions of The Royal Society of London, Series B 358(1430): 393-403 (2003) Marrafa C and Reddihough DS. Developmental delay and disability. ln:Paxton G, Munro J, Wilkinson D and Marks M (eds). Paediatric Handbook. Blackwell Publishing: Melbourne (2003) Marshall J, Botes J, Gorrie G, Boardman C, Gregory J, Griffith J, Hogg G, Dimitriadis A, Catton M and Bishop R. Rotavirus detection and characterisation in outbreaks of gastroenteritis in aged care facilities. Journal of Clinical Virology 28: 331-340(2003)

Massicotte MP, Chan AK, DeVeber G and Monagle P. Venous thrombosis in children. Thrombosis and Haemostasis 1(7): 1443-1455 (2003)

McNair J and Reilly S. The pros and cons of Videofluoroscopy assessment of swallowing in children. Asia Pacific Journal of Speech, Language and Hearing (in press)

Massie J, Efron D, Cerritelli B, South M, Powell C, Gilbert E, Vidmar 5, Carlin J and Robertson C. Implementation of evidence-based guidelines for paediatric asthma management in a teaching hospital. Archives of Disease in Childhood (in press)

Meade B, Barnett P and Walker T. Right technology, right situation - a case report on prehospital telemedicine. Journal of Emergency Primary Health Care 1:1-2 (2003)

Mathai J, Anderson PJ and Bourne A. Use of the Strengths and Difficulties Questionnaire (SDQ) as an outcome measure in a child and adolescent mental health service. Australasian Psychiatry 11 (3): 334-337 (2003)

Meara JG, Burvin R, Bartlett RA and Mulliken JB. Anthropometric study of synostotic frontal plagiocephaly: Before and after fronto-orbitai advancement with correction of nasal angulation. Plastic and Reconstructive Surgery 112(3): 731-739 (2003)

Mathai J and North A. Spiritual history of parents of children attending a child and adolescent mental health service. Australasian Psychiatry 11: 172-174 (2003)

Menahem S and Grimwade J. Pregnancy termination following prenatal diagnosis of serious heart disease in the fetus. Early Human Development 73: 71-78 (2003)

McBurney H, Taylor NF, Dodd KJ and Graham HK. A qualitative analysis of the benefits of strength training for young people with cerebral palsy. Developmental Medicine and Child Neurology 45: 658-663 (2003) McClive PJ, Hurley TM, Sarraj MA, Van Den Bergen JA and Sinclair AH. Subtractive hybridisation screen identifies sexually dimorphic gene expression in the embryonic mouse gonad. Genesis 37: 84-90 (2003) McClive PJ and Sinclair AH. Type II and IX collagen transcript isoforms are expressed during mouse testis development. Biology of Reproduction 68: 1742-1747 (2003) McCredie MRE, Dite GS, Southey MC, Venter DJ, Giles GG and Hopper JL. Risk factors for breast cancer in young women by oestrogen receptor and progesterone receptor status. British Journal of Cancer 89(9): 1661-1663 (2003) McDonnell CM, Coleman L and Zacharin M. A 3-year prospective study to assess uterine growth in girls with Turner's syndrome by pelvic ultrasound. Clinical Endocrinology 58: 446-450 (2003) McDonnell CM, Harris M and Zacharin M. Iodine deficiency and goitre in schoolchildren in Melbourne, 2001. Medical Journal of Australia 178: 159-162 (2003) McDonnell CM and Zacharin M, Adrenal cortical tumours: 25 years' experience at the Royal Children's Hospital, Melbourne. Journal of Paediatrics and Child Health 39: 682-685 (2003) McFerran-Skewes K and Sawyer SM. From recreation to creative expression: The essential features of an adolescent inpatient psychosocial support programme. Annals of Academy of Medicine Singapore 32: 64-70 (2003)

Miller A, Hong M and Hutson JM. The broad ligament: a review of its anatomy and development in different species and hormonal environments. Clinical Anatomy (in press) Mok GC and Menaham S. Large pericardial effusions of inflammatory origin in childhood: a 21 year experience. Cardiology in the Young 13: 131-136 (2003) Monagle P and Andrew M. Acquired disorders of hemostasis. In: Nathan, Orkin, Ginsburg and Look (eds). Nathan and Oski's Hematology of Infancy and Childhood. Philadelphia (2003) Monagle P and Andrew M. Developmental hemostasis: Relevance to Newborns and Infants. In: Nathan, Orkin, Ginsburg and Look (eds). Nathan and Oski's Hematology of Infancy and Childhood. Philadelphia (2003) Monagle R Chan A, Albisetti M, Vegh R Mitchell L and Andrew M. The fibrinolytic system in adolescents: response to venous occlusion stress tests. Pediatric Research 53(2): 333-337 (2003) Monagle P and Hagstrom J. Developmental Haemostasis. In: Polin, Fox and Abman (eds). Fetal and Neonatal Physiology. Elsevier: St Louis (2003) Mount RH, Charman T, Reilly S, Hastings RP and Cass H. Features of autism in Rett syndrome and severe mental retardation. Journal of Autism and Developmental Disorders 33(4): 435-442 (2003) Mount RH, Hastings RP, Reilly S, Cass H and Charman T. Towards a behavioural phenotype for Rett syndrome. American Journal of Mental Retardation 108: 1-12 (2003) Mulholland EK and Bjorvatn B. Introduction of new vaccines in the healthcare system. In: Bloom B and Lambert P (eds). The Vaccine Book. Academic Press (2003)

McKeown SJ, Newgreen DF and Farlie PG. Temporal restriction of migratory and lineage potential in rhombomere 1 and 2 neural crest. Developmental Biology 255: 62-76 (2003)

Mulholland K. Global burden of acute respiratory infections in children: implications for inten/entions. Pediatric Pulmonology 36: 469-474 (2003)

McMaster P and Shann F. The use of extracorporeal techniques to remove humoral factors in sepsis. Pediatric Critical Care Medicine 4: 2-7 (2003)

Newall FH, Barnes CB, Ignatovic V and Monagle P. Heparin induced thrombocytopenia in children. Journal of Paediatrics and Child Health 39: 289-292 (2003)

Newall FH, Barnes CB, Savoia HF, Campbell J and Monagle R Warfarin therapy in children requiring long term total parenteral nutrition (TPN). Pediatrics 112(5): e386 (2003) Nixon GM, Glazner JA, Martin JM and Sawyer SM. Female sexual health care in cystic fibrosis. Archives of Disease in Childhood 88: 265-266 (2003)

Peters H, Nefedov M, Sarsero JP Pitt J, Fowler KJ, Gazeas S, Kahler S and loannou PA. A knockout mouse model for methylmalonic aciduria resulting in neonatal lethality. Journal of Biological Chemistry 278: 52909-52913 (2003) Phavichitr N and Catto-Smith AG. Acute gastroenteritis in children: what role for antibacterials? Pediatric Drugs 5: 279-290 (2003)

Nugent A, Daubeney PED, Chondros R Carlin J, Cheung M, Wilkinson JL, Davis AM, Kahler SG, Wilkinson L and Weintraub RG. The epidemiology of childhood cardiomyopathy in Australia. New England Journal of Medicine 348: 1639-1646 (2003)

Phavichitr N, Cameron DJS and Catto-Smith AG. Increasing incidence of Crohn's disease in Victorian children. Journal of Gastroenterology and Hepatology 18: 329-332 (2003)

Oberklaid F, Goldfeld S and Moore T. Community based services and the needs of families: is there a mismatch? Journal of Paediatrics and Child Health 39(2):93-94 (2003)

PIrkis JE, Irwin CE, Brindis C, Patton GC and Sawyer MG. Adolescent substance use: beware of international comparisons. Journal of Adolescent Health 33: 279-286 (2003)

Olsson CA, Bond L, Burns JM, Vella-Brodrick DA and Sawyer SM. Adolescent resilience: a concept analysis. Journal of Adolescence 26: 1-11 (2003) Olsson CA, Bond L, Johnson MW, Forer DL, Boyce MF and Sawyer S. Adolescent chronic illness: a qualitative study of psychosocial adjustment. Annals of Academy of Medicine Singapore 32: 43-50 (2003)

Pirpiris M, Wilkinson AJ, Rodda J, Nguyen TC, Baker RJ, Nattrass GR and Graham HK. Walking speed in children and young adults with neuromuscular disease: comparison between two assessment methods. Journal of Pediatric Orthopaedics 23: 302-307 (2003)

Orme LM, Bond JD, Humphrey MS, Zacharin M, Downie PA, Jamsen KM, Mitchell SL, Robinson JM, Grapsas NA and Ashley DM. Megestrol Acetate in Pediatric Oncology patients may lead to severe, symptomatic adrenal suppression. American Cancer Society 98: 397-405 (2003)

Poon C, Meara JG and Heggie AA. Hemifacial microsomia: use of the OMENS-Plus classification at the Royal Children's Hospital of Melbourne. Plastic and Reconstructive Surgery 111(3): 1011-1018 (2003)

Patton GC, Coffey C, Posterino M, Carlin JB and Bowes G. Life events and early onset depression: cause or consequence? Psychological Medicine 33: 1203-1210 (2003) Patton GC, Coffey C and Sawyer SM. The outcome of adolescent eating disorders: findings from the Victorian Adolescent Health Cohort Study. European Child and Adolescent Psychiatry 12: 25-29 (2003)

oe Q£

Pirouzmanesh A, Reinisch JR Gonzales-Gomez I, Smith EM and Meara JG. Pilomatrixoma: a review of 336 cases. Plastic and Reconstructive Surgery 112(7): 1784-1789 (2003)

Orford M, Jamsai D, McLenachan S and loannou PA. Modification of human BAC clones for functional studies and therapeutic applications. Methods in Molecular Biology: Mammalian Artificial Chromosomes 240: 243-266 (2003)

Patton GC, Bond L, Butler H and Glover S. Changing schools, changing health? The design and implementation of the Gatehouse Project. Journal of Adolescent Health 33: 231-239 (2003)

Pirpiris M, Trivett A, Baker R, Rodda J, Nattrass GR and Graham HK. Femoral derotation osteotomy in spastic diplegia. Proximal or distal? Journal of Bone and Joint Surgery 85: 265-272 (2003)

Parker M, Williamson R and Savulescu J. Ethical Issues in Genetic Research. CRC for Discovery of Genes for Common Human Diseases: Australia (2003)

Pirkis JE, Irwin CE, Brindis CD, Sawyer MG, Friestad C, Biehl M and Patton GC. Receipt of psychological or emotional counselling by suicidal adolescents. Pediatrics 111: 388-393 (2003)

Olsson CA, Coffey C, Toumbourou JW, Bond L, Thomas L and Patton G. Family risk factors for adolescence cannabis use: a population based survey of Australian secondary school students. Drug and Alcohol Review 22: 143-152 (2003)

Otiowski MF and Williamson R. Ethical and legal issues and the "new genetics". Medical Journal of Australia 178: 582585 (2003)

Poulakis Z, Barker M and Wake M. Six month impact of false positives in an Australian infant hearing screening programme. Archives of Disease in Childhood 88(1): 20-24 (2003) Preiss RA, Condie DN, Rowley Dl and Graham HK. Aspects of current management. The effects of Botulinum toxin (BTX-A) on spasticity of the lower limb on gait in cerebral palsy. Journal of Bone and Joint Surgery 85: 943-948 (2003) Prior M. Introduction. In: Learning and Behaviour Problems in Asperger Syndrome. Guilford Press (2003) Prior M. Is there an increase in the prevalence of Autism Spectrum Disorders? Journal of Paediatrics and Child Health 39(2): 81-82 (2003) Prior M. What do we know and where should we go. In: Learning and Behaviour Problems in Asperger Syndrome. Guilford Press (2003)

ANNUAL REPORT 2003

I Provenzano E, Giles GG, Marr G, Hopper JL, Venter DJ and Armes JE. Biological markers that predict clinical recurrence in ductal carcinoma in situ of the breast. European Journal of Cancer 39: 622-630 (2003) Reddihough DS and Collins KJ. The epidemiology and causes of cerebral palsy. Australian Journal of Physiotherapy 49: 7-12 (2003) Reilly S. The evidence base for dysphagia. In: Reilly S, Douglas J and Oates J (eds). Evidence Based Practice in Speech Pathology. Whurr Publishers: London (2003) Reilly S. The moves within healthcare to evidence based practice. In: Reilly S, Douglas J and Oates J (eds). Evidence Based Practice in Speech Pathology. Whurr Publishers: London (2003) Reilly S. What constitutes evidence? In: Reilly S, Douglas J and Oates J (eds). Evidence Based Practice in Speech Pathology. Whurr Publishers: London (2003) Reilly S, Douglas J and Oates J. Evidence based practice and speech pathology: the way forward. In: Reilly S, Douglas J and Oates J (eds). Evidence Based Practice in Speech Pathology. Whurr Publishers: London (2003) Rerksuppaphol S, Midolo P, Ward P and Hardikar W. Antibiotic resistance of Helicobacter pylori in children. Journal of Paediatrics and Child Health 39: 332-335 (2003) Rice JE, Skull SA, Pearce C, Mulholland N, Davie G and Carapetis JR. Screening for intestinal parasites in recently arrived children from East Africa. Journal of Paediatrics and Child Health 39(6):456-459 (2003) Riordan SM, Skinner N, Nagree A, McCallum H, Mclver CJ, Kurtovic J, Hamilton JA, Bengmark S, Williams R and Visvanathan K. Peripheral blood mononuclear cell expression of toll-like receptors and relation to cytokine levels in cirrhosis. Hepatology 37: 1154-1164 (2003) Robertson SP, Twigg SRF, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell 0, Schwartz C, Shears DJ, Suri M, Kendrick-Jones J, Wilkie 0AM and Savarirayan R. Localized mutations in FLNA, encoding the actin cross-linking protein filamin A, cause diverse malformations in hutinans. Nature Genetics 33: 487-491 (2003)

Roche P Lambert S and Spencer J. Surveillant/? of viral pathogens in Australia: respiratory syncytial virus. Communicable Diseases Intelligence 27: 117-122 (2003) Rogers EJ, Gilbertson HR, Heine RG and Henning R. Barriers to adequate nutrition in critically ill children. Nutrition 19: 865-868 (2003) Rome ES, Ammerman S, Rosen DS, Keller RJ, Lock J, Mammel KA, O'Toole J, Rees JM, Sanders MJ, Sawyer SM, Schneider M, Sigei E and Silber TJ. Children and adolescents with eating disorders: the state of the art. Pediatrics 111: 98-108(2003)

74 ^ ANNUAL REPORT 2003

Roseby R, Marks MK, Conn J and Sawyer SM. Improving medical student performance in adolescent anti-smoking health promotion. Medical Education 37: 704-708 (2003) Roseby R, Waters E, Polnay A, Campbell R, Webster P and Spencer N. Family and carer smoking control programmes for reducing children's exposure to environmental tobacco smoke. The Cochrane Library Issue 3 (2003) Rosen DS, Blum RW, Britto M, Sawyer SM and Siegel DM. Transition to adult health care for adolescents and young adults with chronic conditions. Journal of Adolescent Health 33:309-311 (2003) Rosen H, Barrios LM, Reinisch JF, MacGill K and Meara JG. Outpatient cleft lip repair. Plastic and Reconstructive Surgery 112(2): 381-387 (2003) Russ SA, Pouiakis Z, Barker M, Wake M, Rickards F, Saunders K and Oberklaid F. Epidemiology of congenital hearing loss in Victoria, Australia. International Journal of Audiology 42: 385-390 (2003) Russell FM, Carapetis JR, Mansoor 0, Darcy A, Fakakovi X Metai A, Potoi NT, Wilson N and Mulholland EK. High incidence of Haemophilus influenzae type b infection in children in Pacific island countries. Clinical Infectious Diseases 37: 1593-1599 (2003) Russell FM, Shann F, Curtis N and Mulholland K. Evidence of the use of paracetamol in febrile children. Bulletin of the World Health Organization 81: 367-372 (2003) Russo VC, Andaloro E, Fornaro SA, Najdovska S, Newgreen DF, Bach LA and Werther GA. Fibroblast Growth Factor-2 overrides Insulin-like Growth Factor-1 induced proliferation and cell survival in human neuoblastoma cells. Journal of Cellular Physiology (in press) Rutishauser C, Esslinger A, Bond L and Sennhauser FH. Consultations with adolescents: the gap between their expectations and their experiences. Acta Paediatrica 92: 1322-1326 (2003) Saadah 01, Oliver MR, Bines JE, Stokes KB and Cameron DJS. Anorectal strictures and genital Crohn disease: an unusual clinical association. Journal of Pediatric Gastroenterology and Nutrition 36(3):403-406 (2003) Saffery R, Sumer H, Hassan S, Wong LH, Craig JM, Todokoro K, Anderson M, Stafford A and Choo KHA. Transcription within a functional human centromere. Molecular Ceil 12: 509-516(2003) Sand LA, Glover S and Coffey C. Adolescent health education programmes: theoretical principles in design and delivery. Annals of Academy of Medicine Singapore 32: 7885 (2003) Sarraj MA, Wilmore HP, McClive PJ and Sinclair AH. Sox15 is up regulated in the embryonic mouse testis. Gene Expression Patterns 3: 413-417 (2003)

Sarsero JP, Li L, Wardan H, Sitte K, Williamson R and loannou PA. Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia. Journal of Gene Medicine 5: 72-81 (2003) Savarirayan R, Robertson SP, Bankier A and Rogers JG. Variable expression of campomelic dysplasia in a father and his 46, XY daughter. Paediatric Pathology and Molecular Medicine 22: 37-46 (2003) Savarirayan R, Thompson EM and Gea J. Spondyloepiphyseal dysplasia tarda (SEDL). European Journal of Human Genetics 11: 642-693 (2003) Savarirayan R, White SM, Goodman FR, Graham JM, Delatycki MB, Lachman RS, Rimoin DL, Everman DB and Warman ML. Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. American Journal of Medical Genetics 117A: 1 Be lAZ (2003) Savulescu J. An ethical approach to giving couples information about their fetus. Human Reproduction 18: 2253-2256 (2003) Savulescu J. Assisted reproduction for HIV serodiscordant couples: the ethical issues in perspertive. American Journal of Bioethics 3: 53-57 (2003) Savulescu J. Death, us and our bodies: personal reflections. Journal of Medical Ethics 29: 127-130 (2003) Savulescu J. Human-animal transgenesis and chimeras might be an expression of our humanity. American Journal of Bioethics 3: 22-25 (2003) Savulescu J. Is the sale of body parts wrong? Journal of Medical Ethics 29: 138-139 (2003) Savulescu J. The public interest in embryos. In: Gunning J and Szoke H (eds). The regulation of assisted reproductive technology. Ashgate (2003) Savulescu J. Utilitarianism. In: Cooper D (ed). Nature Encyclopedia of the Human Genome. Nature Publishing Group: London (2003) Sawyer SM. Developmentally appropriate healthcare for young people with chronic illness: questions of philosophy, policy, and practice. Pediatric Pulmonology 36: 363-365 (2003) Sawyer SM and Aroni RA. Sticky issue of adherence. Journal of Paediatrics and Child Health 39: 2-5 (2003) Sawyer S, Court A and Patton G. Adolescent Health. In: Paxton G, Munro J, Wilkinson D and Marks M (eds). Paediatric Handbook. Blackwell Science: Melbourne (2003) Sawyer SM and Fardy HJ. Bridging the gap between doctors' and patients' expectations of asthma management. Journal of Asthma 40: 131-138 (2003) Sizonenko S, Sirimanne E, Mayall Y, Inder TE, Williams C and Gluckman PD. Selective cortical alteration in myelination after hypoxic-ischemic injury in the very immature rat. Pediatric Research 54(2): 263-269 (2003)

Skladal D, Halliday J and Thorburn DR. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 126: 1905-1912 (2003) Slater A, Shann F and McEniery J. The ANZPIC Registry diagnostic codes: a system for coding reasons for admitting children to intensive care. Intensive Care Medicine 29: 271277 (2003) Slater A, Shann F and Pearson G. PIM2: a revised version of the Paediatric Index of Mortality. Intensive Care Medicine 29: 278-285 (2003) Slater HR, Bruno D, Ren H, Pertile M, Schouten JP and Choo KHA. Rapid, high-throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA). Journal of Medical Genetics 40(12): 907-912 (2003) Smart JM, Suphiogiu C and Kemp AS. Age-related T cell responses to allergens in childhood. Clinical and Experimental Allergy 33: 317-324 (2003) Smith CA, Katz M and Sinclair AH. DMRT1 is up-regulated in the gonads during female-to-male sex reversal in ZW chicken embryos. Biology of Reproduction 68: 560-570 (2003) Smithers P, Halliday J, Hale L, Talbot M, Breheny S and Healy D. Mixed sex twins: IVF compared with non-IVF. Fertility and Sterility 80: 666-668 (2003) Southwell BR. Localisation of protein kinase C theta immunoreactivity to interstitial cells of Cajai in guinea pig gastrointestinal tract. Neurogastroenterology and Motility 15: 139-147 (2003) Southwell BR, Farmer P and Hutson JM. Regional variations in SP, VIP and NOS in colon circular muscle from children with slow transit constipation. Gastroenterology 124 (4S): 41 (2003) Southwell BR, Stephen M, Jokubaitis VG and Bornstein JC. Group I metabotropic glutamate receptor antagonism inhibits propulsion in guinea pig colon. Gastroenterology 124(4S): 138(2003) Southwell BR, Stanton MP Farmer p Chow CW, Bornstein JC, Catto-Smith AG and Hutson JM. Slow colonic transit in children - reduced motility is associated with defects in neurotransmitters, receptors and interstitial cells of Cajai. Neurogastroenterology and Motility 15: 221 (2003) Spriggs M. Can we help addicts become more autonomous? Inside the mind of an addia. Bioethics 17: 542-554 (2003) Spriggs M. IVF mix-up: White couple have black babies. Journal of Medical Ethics 29: 65 (2003) Spriggs M. Therapeutic cloning research and ethical oversight. Journal of Medical Ethics 29: 207-208 (2003) Spriggs M and Charles T. Should HIV discordant couples have access to assisted reproductive technologies? Journal of Medical Ethics 29: 325-329 (2003)

■s

Squitieri F, Gellera C, Cannella M, Mariotti C, Cislaghi G, Rubinsztein DC, Almqvist EW, Turner D, Bachoud-Levi AC, Simpson SA, Delatycki MB, Maglione V, Hayden MR and Di Donato S. Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. Brain 126:946-955 (2003) Stanton MP, Hengel PT, Southwell BR, Chow ON, Keck J, Hutson JM and Bernstein JC. Cholinergic transmission in colonic circular muscle of children with slow transit constipation is unimpaired, but NK2 transmission via NK2 receptors is lacking. Neurogastroenterology and Motility 15: 669-678 (2003) Stanton MP, Hutson JM, Simpson D, Oliver MR, Southwell BR, Dinning P, Cook I and Catto-Smith AG. Colonic manometry in children with slow transit constipation shows reduced frequency, amplitude and length of propagating sequences. Gastroenterology 124 (4S): 513 (2003) Stuss D and Anderson V. The frontal lobes and theory of mind: developmental concepts from adult focal lesion research. Brain and Language (in press) Sumer H, Craig JM, Sibson M and Choo KHA. A rapid method of genomic array analysis of scaffold/matrix attachment regions (S/MARs) identifies a 2.5-Mb region of enhanced scaffold/matrix attachment at a human neocentromere. Genome Research 13: 1737-1743 (2003) Summerbell CD, Waters E, Edmunds L, O'Meara S, Campbell K, Kelly S and Ashton VJ. Interventions for treating obesity in children. The Cochrane Library Issue 3 (2003) Tassicker R, Savulescu J, Skene L, Marshall R Fitzgerald L and Delatycki MB. Prenatal diagnosis requests for Huntington disease where the father is at risk and does not want to know his genetic status: clinical, legal and ethical viewpoints. British Medical Journal 326: 331-333 (2003) Taylor R, Eyres R, Chalkiadis G and Austin S. Efficacy and safety of caudal injection of levobupivicaine, 0.25%, in children under 2 years of age undergoing inguinal hernia repair, circumcision or orchidopexy. Paediatric Anaesthesia 13: 114-121 (2003) Tennant 5M, Grant TH and Robins-Browne RM. Pathogenicity of Yersinia enterocolitica biotype 1A. FEMS Immunology and Medical Microbiology 38: 127-137 (2003) Tennant 5M, Skinner NA, Joe A and Robins-Browne RM. Yersinia enterocolitica biotype 1 A: not as harmless as you think. Advances in Experimental Medicine and Biology 529: 125-128(2003)

Tiller K, Meiser B, Reeson E, Tucker M, Andrews L, Gaff C, Phillips KA and Friedlander M. A decision aid for women at increased risk for ovarian cancer. International Journal of Gynaecological Cancer 13; 15-22 (2003) Tomiyama H, Hutson JM, Truong A and Agoulnik A. Transabdominal testicular descent is disrupted in mice with deletion of insulinlike factor 2 receptor. Journal of Pediatric Endocrinology and Metabolism 38: 1793-1798 (2003) Toumbourou JW and Hamilton M. The early impact of involvement in Narcotics Anonymous self-help groups: A report from the role of self-help groups in drug treatment research group. Turning Point Alcohol and Drug Centre Monograph 2: 1-90 (2003) Toumbourou JW, Williams IR, Snow PC and White VM. Adolescent alcohol-use trajectories in the transition from high school. Drug and Alcohol Review 22: 111-116 (2003) Trent RJ, Williamson R and Sutherland GR, The "new genetics" and clinical practice. Medical Journal of Australia 178:406-409 (2003) Truong BN, Moses EK, Armes JE, Venter DJ and Baker HWG. Searching for candidate genes for male infertility. Asian Journal of Androiogy 5: 137-147 (2003) Valllno-Napoli L, Riley M and Halliday J. An epidemiological study of isolated cleft lip and/or palate in Victoria, Australia from 1983-2000. The Cleft Palate-Craniofacial Journal (in press) Venter DJ, Price G and Armes JE. The use of gene expression profiling in tumour classification and management. Cancer Forum 27: 106-108(2003) Visvanathan K, Sundararajan V and Zabriskie JB. Postoperative cognitive decline: association with preoperative tumor necrosis factor-alpha levels. Journal of the American Geriatric Society 51:1673-1674 (2003) Voullaire L, De Crespigny L and Williamson R. Fetal cells in the maternal circulation have different properties compared to fetal cells in the fetal circulation. Prenatal Diagnosis 23; 600-601 (2003) Wake M. Universal Newborn Hearing Screening. In: Moyer V (ed). Evidence Based Paediatrics and Child Health. BMJ Books (2003) Wake M, Hesketh K and Waters E. Television, computer use and body mass index in Australian primary school children. Journal of Paediatrics and Child Health 39: 130-134 (2003)

Tibballs J and Oakley E. Medical Emergencies. In: Paxton G, Munro J, Wilkinson D and Marks M (eds). Paediatric Handbook. Blackwell Publishing: Melbourne (2003)

Wake M, Salmon L and Reddihough DS. Health status of Australian children with mild to severe cerebral palsy: crosssectional survey using the Child Health Questionnaire. Developmental Medicine and Child Neurology 45: 194-199 (2003)

Tiedemann K, South M and Monagle R Haematologic conditions and oncology. In: Paxton G, Munro J, Wilkinson D and Marks M (eds). Paediatric Handbook. Blackwell Publishing: Melbourne (2003)

Wan J, Meara JG, Nelson M, Don D and Kovanlikaya A. Temporal bone anomalies and audiologic findings in hemifacial microsomia. Annals of Plastic Surgery 51(2): 161166(2003) Warne GL. Congenital adrenal hyperplasia: long-term outcome studies. The Endocrinologist 13: 179-181 (2003)

Warne GL. Support groups for AIS and CAH. The Endocrinologist 13: 175-178 (2003) Warne GL. The ethics of gender assignment. The Endocrinologist 13: 182-186 (2003) Waters E. Evidence-based paediatric practice and its relation to the Cochrane Collaboration. Journal of Paediatrics and Child Health 39; 137-138 (2003) Waters E and Baur L. Childhood obesity: modernity's scourge. Medical Journal of Australia 178(9): 422-423 (2003) Waters E and Doyle J. Evidence-based public health: Cochrane update. Journal of Public Health Medicine 25(1): 72-75 (2003)

Wiberg C, Klatt AR, Wagener R, Paulsson M, Bateman JF, Heinegard D and Morgelin M. Complexes of matrilin-land biglycan and decorin connect collagen Vi microfibrils to both collagen II and aggrecan. Journal of Biological Chemistry 278: 37698-37704 (2003) Wightman PJ, Santer R, Ribes A, Dougherty F, McGill N, Thorburn DR and FitzPatrick DR. MLYCD mutation analysis: evidence for protein mistargeting as a cause of malonyl-CoA decarboxylase deficiency. Human Mutation 22: 288-300 (2003) Williamson R and Cameron C. Is there an ethical difference between preimplantation genetic diagnosis and abortion? Journal of Medical Ethics 29: 90-92 (2003)

Waters E, Doyle J and Jackson N. Evidence-based public health: improving the relevance of Cochrane Collaboration systematic reviews to global public health priorities. Journal of Public Health Medicine 25: 263-266 (2003)

Wilton L, Vouillaire L, Sargeant R Williamson R and McBain J. Preimplantation aneuploidy screening using comparative genomic hybridization or florescence in situ hybridization of embryos from patients with recurrent implantation failure. Fertility and Sterility 80: 860-868 (2003)

Waters E, Stewart-Brown S and Fitzpatrick R. Agreement between adolescent self-report and parent reports of health and well-being: results of an epidemiological study. Child: Care, Health and Development 29(6): 501-509 (2003)

Wolfe R, Carlin JB and Patton GC. Transitions in an imperfectly observed binary variable: depressive symptomatology in adolescents. Statistics in Medicine 22: 427-440 (2003)

Waters E, Wake M, Hesketh K, /kshiey DM and Smibert E. Health-related quality of life of children with acute lymphoblastic leukaemia: comparisons and correlations between parent and clinician reports. International Journal of Cancer 103(4): 514-518(2003)

Wong SS, Lozano G, Gaff CL, Gardner RJM, Strong LC, Aittomaki K and Lindeman GJ. Novel p53 spice site mutation in a patient with Li-Fraumeni Syndrome. Internal Medicine Journal 33: 621-623 (2003)

Watson L, Bell R, Halliday J, Watson M, Burford N and Brennecke S. Is there an increased role for general practice in making women more aware of folate supplementation to prevent neural tube defects? Australian Family Physician 32: 568-569 (2003) Weaving LS, Williamson SL, Bennetts B, Davis M, Ellaway CJ, Leonard H, Thong MK, Delatycki MB, Thompson EM, Laing N and Christodoulou J. Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype. American Journal of Medical Genetics 118A: 103-114(2003) Weber W, Carlin JB, Gatchalian S, Lehmann D, Muhe L, Mulholland K and WHO Infants Study Group. Predictors of neonatal sepsis in developing countries. Pediatric Infectious Diseases 22: 711-716(2003) Werther GA, Wang M and Cowell CT. An auxology-based growth hormone program: update on the Australian experience. Journal of Pediatric Endocrinology and Metabolism 16: 5613-618(2003) White SM, Ades LC, Amor DJ, Liebelt J, Bankier A, Baker E, Wilson M and Savarirayan R. Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition. Clinical Dysmorphology 12: 109-113 (2003) White S, Thompson E, Kidd A, Savarirayan R, Turner A, Amor DJ, Delatycki M, Fahey M, Baxendale A, White S, Haan E, Gibson K, Halliday J and Bankier A. Growth, behaviour and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. American Journal of Medical Genetics (in press)

ae a

Woodward L, Moridge N, Wells S and InderTE. Can neurobehavloural examination predict the presence of cerebral injury in VLBW infants? Journal of Developmental and Behavioural Pediatrics (in press) Yan H, Newgreen DF and Young HM. Developmental changes in neurite outgrowth responses of dorsal root and sympathetic ganglia to GDNR neurturin and artemin. Developmental Dynamics 227: 395-401 (2003) Yeo M, Bonomo Y and Sawyer SM. Acute opioid withdrawal on accidental injection of naltrexone. Journal of Paediatrics and Child Health 39: 315-317 (2003) Yeo M and Sawyer SM. Strategies to promote better outcomes in young people with chronic illnesses. Annals of Academy of Medicine Singapore 32: 36-42 (2003) Yiu WL, Smith AL and Catto-Smith AG. Nasogastric rehydration in acute gastroenteritis. Journal of Paediatrics and Child Health 39: 159-161 (2003) Zacharin M, Pua J and Kanumakala S. Bone mineral density outcomes following long-term treatment with subcutaneous testosterone pellet implants in male hypogonadism. Clinical Endocrinology 58(6): 691-695 (2003) Zar HJ and Mulholland EK. Global burden of pediatric respiratory illness and the implications for management and prevention. Pediatric Pulmonology 36: 457-461 (2003)

ANNUAL REPORT 2003

OUR TEAM

STAFF Director

GRANTS

Research Groups

Professor Bob Williamson FRS FAA

Julia Malone - Grants Officer Maria Salvatico - Administrative Assistant

ADOLESCENT HEALTH

Associate Directors Anne Cronin - Chief Operating Officer Professor John Bateman - Laboratory Research Professor Andy Choo - Strategy Professor Kerr Graham - Clinical Research Professor John Hutson - Clinical Research Professor Frank Oberklaid - Public Health Research Professor George Patton - Public Health Research

Corporate Division Anne Cronin - Chief Operating Officer ADMINISTRATIVE SUPPORT Kylie Morrell - Executive Assistant to Director Colleen King - Personal Assistant to COO Helen Raschella - Administrative Assistant Patricia Callahan - Receptionist Vicki Hint - Receptionist / Library Assistant BIOINFORMATICS Dr Katrina Bell - Bioinformatics Officer BUILDING & SCIENTIFIC SERVICES Barry Holt - Building and Development Manager Andrew Grimes - Technical Services Manager Marisa Fielding - Purchasing / OH&S Manager Ross McKenzie - Operations & Logistics Officer Mandy Parkinson-Bates - Assistant Operations Officer FINANCE Viren Abeyasinghe - Finance Manager Danielle'di Carlo - Accountant Joanne Ha Le - Accountant Areta Smith - Accountant Rebecca Harford - Administrative Assistant Maggie Fu - Patient Accounts Neofita Hajigeorgi - Patient Accounts Christine Keenan - Patient Accounts

GRAPHIC DESIGN Vouia Boukouvalas - Photographer / Graphic Artist Michele Winsor - Photographer / Graphic Artist HUMAN RESOURCES Kathryn Bellion - Human Resources Manager Nicki Carr - Human Resources Officer Kate Duckworth - Human Resources Assistant INFORMATION TECHNOLOGY George Teng - IT Manager Joe Nuchthapho - Network Officer Jason Elliott - Web Administrator Quinten Miller - Support Officer Jim Ristevski - Support Officer Shiipa Shah - Support Officer PAYROLL Debbie Zombolas - Payroll Manager Sharon Dughetti - Payroll Officer Sandra Nield - Payroll Officer Marie-Antoinette van Lunenburg - Payroll Officer PUBLIC RELATIONS Dr Narelle Curtis - Public Relations Manager Kate Longton - Communications Coordinator Michelle Goldstein - Volunteer Josephine Lee - Volunteer SPECIAL PROJECTS Neil Harker - Finance Consultant Anna Kilgour - Project Officer Elizabeth Cooper - Research Assistant Angela Stefani - Research Assistant TECHNICAL SUPPORT Marjorie Crawford - Technical Officer Dino Disint - Technical Assistant Joseph Karlecik - Technical Assistant Poh Choo On - Technical Assistant

Professor George Patton - Group Leader A/Professor Susan Sawyer - Group Leader A/Professor John Toumbourou - Senior Research Manager Dr Sheryl Hemphill - Project Director Dr Lyndal Bond - Program Manager Dr Jenny Proimos - Physician Dr Joanne Williams - Senior Research Fellow Dr Lena Sanci - Postdoctoral Fellow Dr Michele Yeo - Research Fellow Carolyn Coffey - Senior Research Officer Dr Craig Olsson - Senior Research Officer Dr Friederike Veit - Senior Research Officer Dr Max Watson - Senior Research Officer Sandy Cahir - Project Manager Andrea Krelle - Project Manager Sian Lloyd - Project Manager Matt O'Brien - Project Manager Lea Trafford - Project Officer Dr Tracy Evans-Whipp - Research Officer Celia Godfrey - Research Officer John Hargreaves - Research Officer Tania Slaviero - Research Officer Penny Weller - Research Officer Ian Williams - Research Officer Craig Hodges - Operations Manager Sarah Wolfe - Research Manager Alison Shortt - Family Research Manager Denise Becker - Research Assistant Nadine Bertalli - Research Assistant Belinda Cerritelli - Research Assistant Eileen Cini - Research Assistant Jackie Clements - Research Assistant Mary Dimovski - Research Assistant Deirdre Gartland - Research Assistant Angela Hassett - Research Assistant Megan Mathers - Research Assistant Karen Rowland - Research Assistant Claire Stevens - Research Assistant Lyndal Thomas - Research Assistant Michelle Tollit - Research Assistant Dr Dagmar Haller-Hester - PhD Scholar Stephanie Jones - PhD Scholar Andy Lovett - PhD Scholar

Jennifer Nazareth - Finance Officer / PA Helen Butler - Project Coordinator Charmaine Sambathkumar - Administrative Officer Denice Spence - Administrative Coordinator Diana Crocker - Administrative Assistant Elke Power - Administrative Assistant

2 <

ALLIED HEALTH & NURSING Professor Sheena Reilly - Group Leader Professor Linda Johnston - Group Leader Robyn Stargatt - Neuropsychologist Dr Patricia Eadie - Research Fellow Dr Maree Dellaportas - Research Psychologist Christine Imms - Senior Occupational Therapist Melinda Randall - Research Occupational Therapist Roslyn Boyd - Senior Research Physiotherapist Bev Eldridge - Physiotherapist Helen Shoemark - Music Therapist Yin Barrett - Research Assistant Carly Beer - Research Assistant Jason Chew - Research Assistant Kathryn Crossland - Research Assistant Denise Harrison - Research Assistant Sophia Franks - PhD Scholar Judith Glazner - PhD Scholar

0£

ANAESTHESIA & PAIN MANAGEMENT Dr Chris Bolton - Group Leader Dr Andrew Davidson - Group Leader Dr Robert Eyres - Director of Anaesthesia (RCH) Ian McKenzie - Anaesthetist Clare Ellery - Research Assistant Margaret Gibson - Research Assistant Stephanie Stewart - Research Assistant Grace Huang - AMS Scholar ARTHRITIS RESEARCH Dr Amanda Fosang - Group Leader Dr Heather Stanton - Postdoctoral Fellow Karena Last - Research Assistant Clare Meeker - PhD Scholar Jessica Faggian - PhD Scholar Christopher Poon - PhD Scholar

ANNUAL REPORT 2003

ASTHMA, ALLERGY & IMMUNE DISORDERS Dr Mimi Tang - Group Leader Dr David Hill - Group Leader Dr Colin Feekery - Paediatrician Dr Anthony Olinsky - Senior Respiratory Physician Dr John Massie - Respiratory Physician A/Professor Colin Robertson - Respiratory Physician Dr Bob Boyle - Research Fellow Dr Richard Roberts - Scientist Anne Balloch - Research Officer Natasha Solly - Research Officer Johanna Kappers - Research Nurse Sally Sheridan - Research Nurse Nicole Bate - Research Assistant Mary Roberts - Research Assistant Julie Smith - Research Assistant Anthea Ryall - Project Coordinator Liam Welsh - MPhil Scholar BEHAVIOURAL GENETICS Dr Richard Anney - Group Leader Dr Craig Olsson - Postdoctoral Fellow Mehrnoush Lotfi-Miri - Research Assistant CANCER BIOLOGY, THERAPIES & TRIALS A/Professor David /kshley - Group Leader Dr Christine Hawkins - Group Leader Dr Ngaire Elwood - Group Leader Dr Elizabeth Algar - Group Leader /VProfessor Paul Monagle - Director, Lab Services (RCH) Dr Simon Bol - Cord Blood Bank (CBB) Manager Professor Henry Ekert - Consultant Dr John Heath - Senior Research Fellow Jeanette Ripper - CBB Production Manager Naomi Adler - CBB Scientist Susan Pongrac - CBB Scientist Linda Chilcott - CBB Clinical Coordinator Jenny Forrester - CBB Clinical Coordinator Jane Kaye - CBB Clinical Coordinator Lisa Kropf - CBB Clinical Coordinator Sally Morrissy - CBB Clinical Coordinator Dr Matthew Burton - Flow Cytometry Manager Dr Denise Caruso - Research Officer Gerlinda Amor - Research /Assistant Billie Bogdan - Research Assistant Melissa Ferguson - Research Assistant Janine Furmedge - Research Assistant Shan Li - Research Assistant Andrea Muscat - Research Assistant

78 ^ ANNUAL REPORT 2003

Michelle Puryer - Research Assistant Christopher Riffkin - Research Assistant Po-ki Ho - PhD Scholar Anissa Jabbour - PhD Scholar Anita Sridhar - Honours Student Marguerite Wijetunge - Office Coordinator CANCER GENOMICS A/Professor Deon Venter - Group Leader Dr Natalia Yarovaya - Senior Research Officer John Ciciulla - Research Assistant Alexis Mahoney - Research Assistant Michelle McMahon - Research Assistant Justine Peeters - Research Assistant Gareth Price - Research Assistant Rachael Williams - Research Assistant Julie Wood - Research Assistant CELL & GENE THERAPY A/Professor Panos loannou - Group Leader Dr Joseph Sarsero - Senior Postdoctoral Fellow Dr Jim Vadolas - Senior Postdortoral Fellow Dr Keith Al-Hasani - Postdoctoral Fellow Dr Katerina Ejeskar - Postdoctoral Fellow Dr Brigitte Sturm - Visiting Postdoctoral Fellow Timothy Holloway - Research Assistant Lingli Li - Research Assistant Hady Wardan - Research Assistant Peta Clancy - Resident Artist Alan Ki Kong - PhD Scholar Samuel McLenachan - PhD Scholar Dr Heidi Peters - PhD Scholar Faten Zaibak - PhD Scholar Jean-Francois Benoitt - Visiting PhD Scholar Moon-Ley Tung - AMS Scholar Sara Howden - Honours Student Anja Knaupp - Student Marco Bosmans - Visiting Student Max Voncker - Visiting Student Chryso Pierides - Technical Assistant Evan Tamanas - Technical Assistant CELL & MATRIX BIOLOGY Professor John Bateman - Group Leader Dr Shireen Lamande - Group Leader Dr Jamie Fitzgerald - Group Leader Dr Daniele Belluoccio - Postdoctoral Fellow Dr Richard Wilson - Postdoctoral Fellow Naomi Adams - Research /Assistant Susanna Freddi - Research Assistant

Suzanne Golub - Research Assistant Robyn McNeil - Research Assistant Sharon Rudd - Research Assistant Justin Allen - PhD Scholar Naomi Baker - PhD Scholar Trevor Cameron - PhD Scholar Irma Gresshoff - PhD Scholar Othon Gervasio - Visiting PhD Scholar Shirley D'Cruz - Personal Assistant CHILD DEVELOPMENT & REHABILITATION A/Professor Dinah Reddihough - Group Leader Dr Giuliana Antolovich - Research Fellow Dr Christine Olesch - Paediatrician Dr Anne Rickards - Psychologist Dr George Brown - Occupational Therapist Jacquie Simpson - Early Intervention Teacher Katie Hazard - Research Assistant Anna Lanigan - Research Assistant Sue Reid - Research Assistant Janet Walstab - Research Assistant CHROMOSOME RESEARCH Professor Andy Choo - Group Leader Dr Richard Saffery - Research Fellow Dr Karen Bentley - Postdoctoral Fellow Dr Jeff Craig - Postdoctoral Fellow Dr Paul Kalitsis - Postdoctoral Fellow Dr Jo Perry - Postdoctoral Fellow Dr Hua Ren - Postdoctoral Fellow Dr Lee Wong - Postdoctoral Fellow Elizabeth Earle - Research Scientist Melissa Anderson - Research Assistant Belinda Griffiths - Research Assistant Julie Quach - Research Assistant Angela Stafford - Research Assistant Paul Canham - Technical Officer Dr David Amor - PhD Scholar Sarah Chan - PhD Scholar Sara Hassan - PhD Scholar Danielle Irvine - PhD Scholar Owen Marshall - PhD Scholar Margaret Shaw - PhD Scholar Huseyin Sumer - PhD Scholar Nicholas Wong - PhD Scholar Sherry Chang - Honours Student Anderly Chueh - Honours Student

CLINICAL EPIDEMIOLOGY & BIOSTATISTICS Professor John Carlin - Group Leader Professor Terry Nolan - Group Leader Dr Ruth Morley - Group Leader Kerry-Ann O'Grady - Senior Research Fellow Dr Vanessa Johnston - Senior Research Fellow Dr Stephen Lambert - Senior Research Fellow Susan Donath - Epidemiologist/Biostatistician Gabrielle Davie - Research Officer Jacinta O'Sullivan - Research Officer Suzanna Vidmar - Senior Research Assistant Claudine Chionh - Research Assistant Dale Cooper - Research Assistant Susie Gabriel - Research Assistant Philip Greenwood - Research Assistant Kris Jamsen - Research Assistant Ethna Macken - Research Assistant Natasha Davidson - Program Coordinator Lyndal Thomas - PhD Scholar Maggie Flood - Research Midwife Sandra Dickin - Adminstrative Officer Sarah Kofoed - AMS Scholar Marita Kefford - Study Co-ordinator CLINICAL TRIALS Dr Noel Cranswick - Group Leader Dr Alissa Urn - Clinical Research Fellow Rachael Carrington - Clinical Trial Coordinator Nicole Davidson - Clinical Trial Coordinator Kathryn Ross - Clinical Trial Coordinator Sophie Uren - Clinical Trial Coordinator Tria Williams - Clinical Trial Recruitment Officer Yvonne Wrigglesworth - Administrative Officer Kathryn O'Hare - Administrative Assistant COMMUNITY CHILD HEALTH Professor Frank Oberklaid - Group Leader /VProfessor Elizabeth Waters - Group Leader /VProfessor Melissa Wake - Group Leader Dr Daryl Efron - Senior Research Fellow Dr Tim Moore - Senior Research Fellow Dr Joanne Williams - Senior Research Fellow Dr Jordana Bayer - Postdoctoral Fellow Dr Sharon Goldfeld - Honorary Research Fellow Julie Green - Senior Research Officer Dr Martin Wright - Senior Lecturer Hadassa Aurbach - Research /Assistant Jennifer Gorrie - Research Assistant Lois Grant - Research /Assistant

Jutta Hau - Research Assistant John Hill - Research Assistant Michelle Monro - Research Assistant Stacey Rich - Research Assistant Richard Kaa - Project Coordinator Donna Anderson - Senior Officer - Training Janice Burke - Senior Project Officer Jodie Doyle - Senior Project Officer Tessa Hughes - Senior Project Officer Nicola Jackson - Senior Education & Training Officer Shannon Newman - Senior Project Officer Jennifer Parrott - Senior Project Officer Melinda Barker - Research Officer Lisa Gibbs - Research Officer Dr Anjali Haikerwal - Research Officer Dr Elise Maher - Research Officer Dr Zeffie Poulakis - Research Officer Susan Gallagher - Research Assistant Bibi Gerner - Research Assistant Anne Hampton - Research Assistant Dr Faline Howes - Research Assistant Elizabeth Hughes - Research Assistant Victoria Inglis - Research Assistant Alexandra Jordan - Research Assistant Kate Love - Research Assistant Vanessa McKay - Research Assistant Elise Morton-Allen - Research Assistant Jane Sheehan - Research Assistant Elizabeth Smith - Research Assistant Sherryn Tobin - Research Assistant Dr Michele Campbell - PhD Scholar Kylie Hesketh - PhD Scholar Dr Zoe McCallum - PhD Scholar Jennifer Bite - Administrative Assistant Anna Hutchison - Administrative Assistant Jessie Hutchison - Administrative Assistant Sally Lockhart - Administrative Assistant Aisha Williams - Administrative Assistant Dane Williams - Administrative Assistant Corinne Tey - Data Clerk CRANIOFACIAL SCIENCES A/Professor Nicky Kilpatrick - Group Leader Dr Peter Farlie - Research Fellow Mark Gussy - PhD Scholar Dr Negar Jamshidi - PhD Scholar Julie Reid - PhD Scholar Annette Da Costa - Clinical Research Coordinator

DERMAL THERAPEUTICS

GENE IDENTIFICATION & EXPRESSION

Dr Christopher Wraight - Group Leader Dr Lynne Atley - Project Leader Dr Stephanie Edmondson - Project Leader Anna Kilgour - Business Manager Frank Anastasopoulos - Research Assistant Leanne Bullas - Research Assistant Rhys Fogarty - Research Assistant Susan Thumiger - Research Assistant Lee-Ann Jones - Administrative Assistant

A/Professor Henrik Dahl - Group Leader Dr Michelle de Silva - Postdoctoral Fellow Dr Kirby Siemering - Postdoctoral Fellow Dr Shehnaaz Manji - Postdoctoral Fellow Dr Lee Parry - Postdoctoral Fellow Wendy Hutchison - Scientific Officer Julie Anne Aloe - Research Assistant Helen Christopoulos - Research Assistant Therese Kelly - Research Assistant Michelle Newman - Research Assistant Amelia Osborn - Research Assistant Michael Hildebrand - PhD Scholar Eleanor Lee - AMS Scholar Brita Soerensen - Visiting Student Evan Williams - Honours Student

DISEASE MODELS Dr Kerry Fowler - Group Leader Sophie Gazeas - Senior Technical Officer Julia Broughton - Technical Assistant Nicole Kerr - Technical Assistant Leonie Kurth - Technical Assistant Boni McComb - Technical Assistant Carly Turner - Technical Assistant EMBRYOLOGY Dr Don Newgreen - Group Leader Tania Hatzistavrou - Research Assistant Michael Mariani - Research Assistant Joseph Minichiello - Research Assistant Gullveig Reed - Research Assistant Dr Tam Dieu - PhD Scholar Natalie Jones - PhD Scholar Samara Lewis - PhD Scholar Sonja McKeown - PhD Scholar ENTERIC VIRUSES Professor Ruth Bishop - Group Leader Professor Graeme Barnes - Group Leader Dr Carl Kirkwood - Group Leader Dr Jim Buttery - Senior Research Officer Karen Boniface - Research Assistant Ruth Clark - Research Assistant Nada Bogdanovic-Sakran - Technical Assistant Retno Palupi - AMS Scholar Jonathon Tan - AMS Scholar Vesna Markovska - Honours Student ETHICS Professor Julian Savulescu - Group Leader Professor Bob Willamson FRS FAA - Group Leader Dr Lynn Gillam - Postdoctoral Fellow Dr David Rodin - Postdoctoral Fellow Dr Merle Spriggs - Postdoctoral Fellow Bennett Foddy - Research Assistant Rony Duncan - PhD Scholar

GENETIC EDUCATION Dr Sylvia Metcalfe - Group Leader Dr MaryAnne Aitken - Group Leader Fiona Cunningham - Education Director Renee Dow - Education Officer Justin Freeman - Statistician Jane Wallace - Project Officer Elizabeth Flouris - Research Assistant Juliette Hooper - Research Assistant Sheri Todd - Research Assistant Anna Flouris - PhD Scholar Alexandra Gason - PhD Scholar Jan Hodgson - PhD Scholar Eilis Hughes - Masters Scholar Caroline Lambert - Masters Scholar Michele Lim - AMS Scholar Matthew Burgess - SALP Student Lydia Gaffney - Administrative Assistant GERM CELL RESEARCH Dr Suzanne Hasthorpe - Group Leader Kelly Roeszler - Research Assistant

Graeme Finlayson - Research Assistant Fran Justice - Research Assistant Misel Trajanovska - Research Assistant GUT MOTILITY Dr Bridget Southwell - Group Leader Sebastian Djaja - AMS Scholar Sim Yee Ong - AMS Scholar Andrea Harrington - Honours Student Mary Southwell - Volunteer

HEART RESEARCH

Professor Dan Penny - Group Leader Dr Christian Brizard - Group Leader Dr Alan Sandford - Consultant Dr James Wilkinson - Senior Cardiologist Dr Andrew Davis - Paediatric Cardiologist A/Professor Samuel Menahem - Paediatric Cardiologist Dr Robert Weintraub - Paediatric Cardiologist Dr Kate Simpson - Trainee Research Scholar Jonathan Mynard - Research Assistant Lorraine Fitzgerald - Personal Assistant

Q£ 3

HORMONE RESEARCH Professor George Werther - Group Leader Dr Fergus Cameron - Group Leader A/Professor Garry Warne - Group Leader Dr Vincenzo Russo - Group Leader Dr Justin Brown - Endocrinologist Dr Kisho Kobayashi - Research Fellow Dr Ciara McDonnell - Research Fellow Dr Karen Greenland - Senior Research Officer Dr Susie Ymer - Senior Research Officer Helen Tracy - Development Officer Elena Andaloro - Research Assistant Suzana Metaxas - Research Assistant David Cossens - PhD Scholar Janifer Wong - PhD Scholar Catherine Oliver - AMS Scholar

GUT & LIVER DISORDERS

INTERNATIONAL CHILD HEALTH

A/Professor Julie Bines - Group Leader Dr Katie Allen - Group Leader Dr Monique Paris - Senior Research Fellow Dr Annette Webb - Study Coordinator/Gastroenterologist A/Professor Paul Wright - Visiting Research Fellow Daphne Cheah - Research Officer Dr Nicole Pettigrew-Buck - Research Officer Christine Chun Xiao Wang - Visiting Researcher

Professor Kim Mulholland - Group Leader Dr Jonathan Carapetis - Senior Medical Researcher Dr Ross Andrews - Senior Research Fellow Samantha Colquhoun - Research Officer Loraine Kelpie - Research Assistant Greta Ludwig - Research Assistant Susi Rogers - Research Assistant Margie Danchin - PhD Scholar Amanda O'Brien - Administrative Officer

ANNUAL REPORT 2003

MICROBIOLOGY & INFECTIOUS DISEASES

MOLECULAR DEVELOPMENT

PAEDIATRIC RESEARCH

Professor Roy Robins-Browne - Group Leader A/Professor Suzanne Garland - Group Leader Dr Elizabeth Hartland - Research Fellow Dr Paul Johnson - Research Fellow Dr Susan Jacobs - Research Fellow Dr Sepher Tabriz! - Research Fellow Victor Wong - Visiting Research Fellow Brian Muller - Senior Research Officer Dr Debbie Baldi - Research Officer Dr Marija Tauschek - Research Officer Louise Adams - Research Assistant Vicki Bennett-Wood - Research Assistant Andrea Bigham - Research Assistant Rosemary Carzino - Research Assistant Susie Germano - Research Assistant Dianna Hocking - Research Assistant Frances Oppedisano - Research Assistant Clare Savage - Research Assistant Gowri Selvaraj - Research Assistant Yan Tan - Research Assistant Rebecca Gorrell - PhD Scholar Sarah List - PhD Scholar Dr Chris Macisaac - PhD Scholar Danielle Marazzato - PhD Scholar Dr Larissa Nicholls - PhD Scholar Catherine Satzke - PhD Scholar Louise Taylor - PhD Scholar Sharon Tennant - PhD Scholar Robert Commons - AMS Scholar Susi Rogers - Masters Scholar Kristy Azzopardi - Honours Student Emily Hart - Honours Student Rosalie Maxted - Administrative Coordinator Danijela Krmek - Technical Assistant

A/Professor Andrew Sinclair - Group Leader Dr Bronwyn Morrish - Postdoctoral Fellow Dr Craig Smith - Postdoctoral Fellow Dr Peter McClive - Senior Research Officer Dr Helen Wilmore - Research Officer Dr Patrick Western - Postdoctoral Fellow Jocelyn Van Den Bergen - Research Assistant Louise Williams - Research Assistant Quanah Hudson - PhD Scholar Tanya Hurley - PhD Scholar Mai Sarraj - PhD Scholar Katarina Bilandzic - Honours Student Catherine Wilson - Honours Student

Professor Glenn Bowes - Head, Paediatrics (University of Melb) A/Professor Mike South - Director, General Medicine (RCH) Dr Peter Barnett - Deputy Director, General Medicine (RCH) Dr Simon Young - Director, Emergency Medicine (RCH) Dr Katherine Rowe - Senior Research Fellow Dr Jenny Hynson - Paediatrician Dr Michael Marks - Senior Lecturer, Paediatrician Dr Joanne Grindlay - Emergency Physician Dr Ed Oakley - Staff Specialist Adrian Hutchinson - Emergency Medicine Sharon Rankin - Emergency Medicine Kate Bride - Manager, Paediatrics (University of Melb) Dr Vera Ignjatovic - Postdoctoral Research Fellow Maureen Spicer - Research Officer Dr Catherine Bauld - Research Assistant Joy Birrell - Research Assistant Jenny Michael - Research Assistant Judy Moon - Research Assistant Heather Somerville - Research Assistant Dr Michele Campbell - Postgraduate Scholar Mary Duffy - Administrative Officer

MITOCHONDRIAL RESEARCH Dr David Thorburn - Group Leader Dr Ayan Dasvarma - Postdoctoral Fellow Dr Renato Salemi - Postdoctoral Fellow Denise Kirby - Scientific Officer Taryn Charles - Research Assistant Erin Oldaker - Research Assistant Voula Mitsakos - Masters Scholar Joost Leenders - Visiting Scholar Canny Sugiana - Honours Student Katherine Vascotto - Honours Student

80 0 ANNUAL REPORT 2003

NEONATAL NEUROLOGY A/Professor Terrie Inder - Group Leader Dr Rod Hunt - Group Leader Dr Peter Anderson - Psychologist Diuyen Shah - Research Fellow Merilyn Bear - Research Nurse Jacqueline Inder - Executive Assistant Debbie Saliba - Executive Assistant

PITUITARY RESEARCH NEONATAL RESEARCH Professor Colin Morley - Group Leader Dr Peter Davis - Group Leader Dr Peter Dargaville - Consultant Dr John Mills - Neonatologist Dr Paul Ekert - Senior Research Officer Beverley Copnell - Research Officer Dr Anastasia Peliicano - Trainee Research Fellow Nisha Brown - PhD Scholar

Dr Paul Thomas - Group Leader Dr Diana Lepore - Postdoctoral Fellow Dr Shelley Ross - Postdoctoral Fellow Sheridan Cook - Research Assistant Runa Daniel - Research Assistant Nicola Solomon - PhD Scholar Joseph Wagner - PhD Scholar Lisa Wilson - PhD Scholar PSYCHOLOGICAL DEVELOPMENT

NEUROSCIENCES A/Professor Andrew Kornberg - Group Leader Dr Rick Leventer - Research Fellow Dr Simon Harvey - Research Fellow Dr Amanda Wood - Postdoctoral Fellow Mia Rowe - Research Assistant ORTHOPAEDICS & GAIT LABORATORY Professor Kerr Graham - Group Leader A/Professor Richard Baker - Group Leader Dr Suzanne Halliday - Postdoctoral Fellow Dr Anthony Schache - Postdoctoral Fellow Roslyn Boyd - Senior Research Physiotherapist Pam Thomason - Research Physiotherapist Dr Richard Baker - Gait Analysis Service Manager Elise Cullis - Research Assistant

Professor Vicki Anderson - Group Leader Dr Elisabeth Northam - Group Leader Professor Margot Prior - Senior Research Fellow Dr Peter Anderson - Research Fellow Dr Lesley Bretherton - Clinical Research Fellow Dr John Mathai - Clinical Research Fellow Ruth Perkins - Clinical Research Fellow Dr Rani Jacobs - Postdoctoral Fellow Dr Cathy Catroppa - Research Psychologist Dr Debbie Rankins - Research Officer

Angela Bourne - Research Assistant Sandra Brown - Research Assistant Nerissa Cordy - Research Assistant Linda Gonzalez - Research Assistant Mia Rowe - Research Assistant Margaret Richardson - Research Assistant Karli Treyvaud - Research Assistant Kelly Howard - PhD Scholar/Research Assistant PUBLIC HEALTH GENETICS A/Professor Jane Halliday - Group Leader Dr Sharon Lewis - Senior Research Fellow Evelyne Muggli - Research Officer Anne Glynn - Research Assistant Veronica Collins - PhD Scholar Alice Jaques - PhD Scholar Catherine Nagle - PhD Scholar Wee Thong Neo - AMS Scholar STAPH & STREP Dr Kumar Visvanathan - Group Leader Dr Nigel Curtis - Group Leader Dr Travis Gooding - Research Officer Narelle Skinner - Research Assistant Dr Penelope Bryant - PhD Scholar SURGICAL RESEARCH Professor John Hutson - Group Leader Dr David Ben Meir - Research Fellow Dr Yasunari Sasaki - Research Fellow Dr Hideki Tomiyama - Research Fellow Pam Farmer - Research Assistant Dr Sebastian King - PhD Scholar

NHMRC AWARDS PROJECT GRANTS Julie Bines Gut & Liver Disorders $85,000 Lyndal Bond Adolescent Health $50,000 Andy Choo / Paul Kalitsis / Jeffery Craig Chromosome Research

$217,500 Suzanne Garland Microbiology & Infectious Diseases $44,000 Jane Halliday Public Health Genetics

$65,000 Sue Hasthorpe Surgical Research $117,000 Harriet Hiscock Community Child Health $65,000 Stuart Hooper / Amanda Fosang Cell & Matrix Biology $83,000 John Hutson Surgical Research $60,000 Terrie Inder Neonatal Neurology $225,000 Susan Jacobs Microbiology & Infectious Diseases $92,500 Nicky Kilpatrick Craniofacial Sciences $18,523 Colin Morley Neonatal Research $102,500

82 ^ ANNUAL REPORT 2003

Ruth Morley University of Melbourne Department of Paediatrics $81,500 Don Newgreen Embryology

$155,000 Don Newgreen Embryology

$130,000 George Patton Adolescent Health $60,000 Sheena Reilly Speech Pathology $100,000 Roy Robins-Browne Microbiology & Infectious Diseases $140,000

DEVELOPMENT GRANT Andy Choo Chromosome Research $165,000 CAREER DEVELOPMENT AWARDS Jonathan Carapetis University of Melbourne Department of Paediatrics Paul Ekert Neonatal Research Jane Halliday Public Health Genetics Christine Hawkins Cancer Biology, Therapies & Trials Nicky Kilpatrick Craniofacial Sciences

Vince Russo Hormone Research $145,000

Paul Thomas Pituitary Research

Andrew Sinclair Molecular Development $270,000

FELLOWSHIPS

Bridget Southwell Gut Motility $65,000 Paul Thomas Pituitary Research $140,000 Eriederike Veit Adolescent Health $38,000 Melissa Wake Community Child Health $97,220 George Werther Hormone Research $135,000 Chris Wraight Hormone Research $150,000

Andy Choo Senior Research Fellowship Chromosome Research

Lena Sanci Public Health Australia Eellowship Adolescent Health Anthony Schache Health Professional Eellowship Orthopaedics & Gait Analysis

David Amor Chris Barnes Margaret Danchin Karen Dunn Rodney Hunt Andrew Lovett Heidi Peters DORA LUSH POSTGRADUATE RESEARCH SCHOLARSHIP Naomi Baker Mark Gussy Danielle Irvine Melanie Knight DENTAL POSTGRADUATE RESEARCH SCHOLARSHIP Negar Jamshidi PUBLIC HEALTH MEDICAL RESEARCH SCHOLARSHIP

David Thorburn Senior Research Fellowship Mitochondrial Research

Zoe McCallum Jenny Proimos Robert Roseby

Paul Lockhart C J Martin Fellowship Genetic Health Research Johanna Perry Peter Doherty Fellowship Chromosome Research

ill

MEDICAL POSTGRADUATE SCHOLARSHIP

Henrik Dahl Senior Research Fellowship Gene Expression & identification

Cathy Catroppa Aust Training Research Fellowship Psychological Development

■i

PUBLIC HEALTH RESEARCH SCHOLARSHIP Kylie Hesketh Julie Reid Lyndal Thomas TRAVELLING SCHOLARSHIP Naomi Baker

EXTERNAL GRANTS Anadis Pty Ltd Rebecca Gorrell Microbiology & Infectious Diseases $22,500

Beyondblue Sara Glover Adolescent Health $272,493

Department of Human Services Melissa Wake Community Child Health $65,000

Gastroenterological Society of Australia Carl Kirkwood Enteric Viruses $66,000

Arthritis Foundation Chris Poon Cell & Matrix Biology $17,000

Biotechnology Australia Sylvia Metcalfe Genetic Education $73,200

Department of Human Services Frank Oberklaid Community Child Health $62,000

GlaxoSmithKline Graeme Barnes / Julie Bines Gut & Liver Disorders $73,000

Asthma Foundation Richard Roberts Respiratory Medicine $20,000

Brockhoff Foundation Dinah Reddihough Child Development & Rehabilitation

$22,500

Department of Human Services Terry Nolan Clinical Epidemiology & Biostatistics $70,711

GlaxoSmithKline Julie Bines Gut & Liver Disorders $45,000

Australian Academy of Science Travel Support for International Scientist Don Newgreen Embryology

Brockhoff Foundation Terrie Inder Neonatal Neurology $32,500

Department of Human Services Sepher Tabrizi Microbiology & Infectious Diseases $23,500

Helen Macpherson Smith Trust Bernice Dodds Psychological Development $40,000

Department of Human Services June McLoughlin Community Child Health $55,000

Ian Potter Foundation Jonathan Carapetis International Child Health $500,000

Financial Markets for Children George Patton Adolescent Health $82,800

Ian Potter Foundation Travel Support Don Newgreen Embryology

Equity Trustees (Lynne Quayle Charitable Trust) Carl Kirkwood Enteric Viruses $96,000

Ian Potter Foundation Travel Support Eilis Hughes Genetic Support Network Victoria $2,250

Friedreich Ataxia Research Association (USA) Martin Delatycki Genetic Health Research $59,000

Juvenile Diabetes Foundation (USA) George Werther Hormone Research $85,000

Garnett Passe and Rodney Williams Memorial Foundation Henrik Dahl Gene Identification & Expression $85,000

Juvenile Diabetes Foundation (USA) Elisabeth Northam Psychological Development $113,000

$1,000 Australian Drug Foundation / Department of Fluman Services George Patton Adolescent Fiealth

$41,000 Australian Lung Foundation Mimi Tang Asthma, Allergy & Immune Disorders $4,000 Australian Research Council Beth Dunn / Helen Shoemark Allied Health & Nursing $24,000 Australian Research Council Julian Savulescu / David McCarthy Ethics $40,000 Beyondblue Lena Sand Adolescent Health $50,000

Cass Foundation Carl Kirkwood Enteric Viruses $30,000 Cass Foundation Katie Allen Gut & Liver Disorders

$35,000 Cass Foundation Richard Wilson Molecular Development $4,100 Cooley's Anemia Foundation (USA) Jim Vadolas Cell & Gene Therapy

$25,000 Department of Family and Community Services June McLoughlin Community Child Health $99,000

$5,000

ANNUAL REPORT 2003

Macquarie Foundation Roslyn Boyd Orthopaedics & Gait Analysis $20,000

National Institutes of Health (USA) Andy Choo Chromosome Research $258,000

Smiletrain (USA) Peter Farlie Embryology $24,500

VicHealth Elizabeth Waters Community Child Health $120,000

Marian and EH Flack Trust John Hutson / Bridget Southwell Surgical Research $15,000

Novo Nordlsk Pharmaceuticals Pty Ltd Jhaike Braham Hormone Research $70,000

Smiletrain (USA) Sheena Reilly Allied Health & Nursing $25,200

VicHealth Elizabeth Waters Community Child Health $55,000

Marian and EH Flack Trust Christine Olesch Child Development & Rehabilitation $31,000

Oxford Matrices (UK) Richard Baker Orthopaedics & Gait Analysis $25,000

Telstra Foundation Elizabeth Waters Community Child Health $30,000

VicHealth Elizabeth Waters Community Child Health $27,500

Muscular Dystrophy Association (USA) David Thorburn Mitochondrial Research $104,600

Paediatric Brain Tumour Foundation (USA) David Ashley Cancer Biology, Therapies & Trials $65,000

Telstra Foundation Frank Oberklald Community Child Health $83,000

VicHealth Elizabeth Waters Community Child Health $55,000

Muscular Dystrophy Association / Friedreich Ataxia Research Alliance (USA) Panos loannou Cell & Gene Therapy $90,000

Perpetual Trustees Dinah Reddihough Child Development & Rehabilitation $14,400

Telstra Foundation Frank Oberklaid Community Child Health $75,000

Wellcome Trust - Equipment John Bateman Cell & Matrix Biology $16,000

University of Melbourne Travel Support Alexandra Gason Genetic Education $3,000

William Buckland Foundation (ANZ Trusts) Andy Choo / Howard Slater Chromosome Research $10,000

University of Melbourne Travel Support Naomi Baker Cell & Matrix Biology $3,000

William Buckland Foundation (ANZ Trusts) Kirby Siemering Gene Identification & Expression $15,000

VicHealth George Patton Adolescent Health $100,000

William Buckland Foundation (ANZ Trusts) Jenny Hynson Paediatric Research $77,995

VicHealth George Patton Adolescent Health $300,000

William Buckland Foundation (ANZ Trusts) Dinah Reddihough Child Development & Rehabilitation $105,975

VicHealth Elizabeth Waters Community Child Health $100,000

World Health Organization Saving Newborn Lives John Carlin Clinical Epidemiology & Biostatistics $19,850

Muscular Dystrophy Association (USA) Panos loannou Cell & Gene Therapy $63,000 National Cancer Institute (USA) Deon Venter Cancer Genomics $68,000 National Heart Foundation Dan Penny Heart Research $50,000 National Institutes of Health (USA) John Toumbourou Adolescent Health $297,054 National Institutes of Health (USA) Henrik Dahl / Melissa Wake Gene Identification & Expression / Community Child Health $348,715

84 H ANNUAL REPORT 2003

Perpetual Trustees Carolyn Coffey / Penny Weller Adolescent Health $40,000 Perpetual Trustees Panos loannou Cell & Gene Therapy $10,000 Perpetual Trustees Linda Gonzalez Psychological Development $28,000 R E Ross Trust Frank Oberklaid/June McLoughlin Community Child Health $246,500 Rotary Inner Wheel Ngaire Elwood Cancer Biology, Therapies & Trials $20,000

MCRI INTERNAL GRANTS PART-TIME CAREER GRANTS

TRAINEE RESEARCH SCHOLARSHIPS

Graeme Barnes Enteric Viruses

Michele Campbell Community Child Health

Julie Bines Gut & Liver Disorders

Deidre Gartland Adolescent Health

Roslyn Boyd Orthopaedics & Gait Analysis

Eva Nagy Gastroenterology

James Buttery Enteric Viruses

Anastasia Pellicano Neonatal Research

Peter Dargaville Neonatal Research

Diana Smidts Psychological Development

Peter Davis Neonatal Research

Michele Su-Ming Yeo Adolescent Health

John Hutson Surgical Research

PROJECT GRANTS

Terrie Inder Neonatal Neurology Richard Leventer Neurosciences John Massie Asthma, Allergy & Immune Disorders Paul Monagle Cancer Biology, Therapies & Trials Elisabeth Northern Psychological Development Mimi Tang Asthma, Allergy & Immune Disorders George Werther Hormone Research

Ruth Bishop Enteric Viruses Peter Dargaville Neonatal Research Michelle de Silva Gene Identification & Expression Ngaire Elwood Cancer Biology, Therapies & Trials Peter Farlie Embryology Jamie Fitzgerald Cell & Matrix Biology Julie Green Community Child Health

Carl Kirkwood Enteric Viruses Shireen Lamande Cell & Matrix Biology John Massie Asthma, Allergy & Immune Disorders Peter McClive Molecular Development John Mills Neonatal Research Ruth Morley University of Melbourne Department of Paediatrics Terry Nolan University of Melbourne School of Population Health

THEME GRANTS John Bateman, Ravi Savarirayan Bone dysplasia program George Patton, Susan Forrest, Craig Olsson Genetic and environmentai determinants of psychosocial disorders in youth Dinah Reddihough, Shaun Brennecke, Kerr Graham, Jane Halliday, Sheena Reilly Victorian cerebral palsy project Andrew Sinclair, Garry Warne, John Hutson, Julian Savulescu, Sylvia Metcalfe Disorders of sexual development Howard Slater, Sharon Keeling, Andy Choo High resolution chromosome analysis using DNA microarray and CGH

Christine Oiesch Child Development & Rehabilitation Richard Roberts Asthma, Allergy & Immune Disorders Roy Robins-Browne Microbiology & Infectious Diseases Bridget Southwell Gut Motility Max Watson Adolescent Health Joanne Williams Community Child Health

Christine Hawkins Cancer Biology, Therapies & Trials

ANNUAL REPORT 2003

DONATIONS THANK YOU TO ALL OUR GENEROUS DONORS IN 2003 A Abercrombie & Kent Paul Aberdeen David Abzatz Ms Beverly Adams Kate Adamson Alfred Eelton Bequest June M Anderson Tim Andrews Annamila Pty Ltd Craig Archer Aus Bio Limited Australian Children Cancer Foundation Australian Institute for Family Studies Australian Leukodystrophy Support Group The AW Tyree Foundation B Mrs S Balint lole & Luigi Barbieri PG & SA Barta Damian Beare Mrs M C Becke JG Begg Mrs Katherine Behrend John Bennie RA Berkowitz Pattie Barrens Di & Neville Bertalli Big W Joe Bishop Robin Bishop Paulie Bloom B'nai B'rith Fellowship Bonds Australia Limited Frank Bongiorno Boroondara District Scouts Professor Glenn Bowes lain Boyd RA Bray Paul W Brotchie Prue & Nick Brown TRJ Brown 86 ^ ANNUAL REPORT 2003

Bruseng Pty Ltd Built Pty Ltd Edward Burley Michael Burn Glen Butler C CAF Community Fund David & Karina Calvert-Jones James, Susannah & Sam Calvert-Jones John & Janet Calvert-Jones The Calvert-Jones Foundation 1st Canterbury Scout Group Barry & Suzi Carp Nicky Carp Sue Castan Chant Link & Associates Charlene Carroll Paul Cherny Dean Cherny Winnie & Wilson Chong G Christian G & G Christiansen Adam & Charlotte Cole Mrs M H Collis Computer Sciences Corporation The Council Brand Communications Laurie & Julie Ann Cox Crazy John's Joe Cross RG Cuningham Rosanne N Cunningham Dr Narelle Curtis Cystic Fibrosis Queensland

& D Jimmy Daboo The Dara Foundation Dr Andrew Davidson John Davies ES Day Aimee Dean-Pritchard Andrew Dexter Diageo Australia Libby Dummett Mrs Kimi Duncan

E Edgar Bell & Co Pty Ltd Zoe Edquist Eli Lilly Australia F Falili Pty Ltd Mrs D Farfor Timothy Farrell FCL Interstate Transport Fenton Communications Jane Fenton Fernwood Womens Health Club The Financial Markets Foundation for Children Flintoff Square Pty Ltd Foresters Friendly Society The Fowler Family Grant & Penny Fowler Mrs Paula Fox L Freeman Friedreich's Ataxia Association G Mrs Neilma Gantner Gadens Lawyers Garnett Passe & Rodney Williams Memorial Foundation L Gaspar Sylvia Gelman George Castan Charitable Foundation Gibson Consulting Nilsson Giselle Norton Gledhill Rachel Goldstein Stuart F Gooley C & L Gould Mrs Louise M Gourlay GP Embelton & Co Pty Ltd Paul Grant Cameron Gray Sam Gribble Gwen Grimwade Michael Gross

H Nick Haddad Hall & Wilcox Lawyers Maurice Hall Dr & Mrs EJ Ham Rachel Hann Mr RA Happen John Hartigan Steven Hassal HP Hatherly Kirsty Hawke 2nd/6th Hawthorn Scout Group Mrs Nan Haydon Kevin & Beryl Hayes Sam Hayes David Heard Geoffrey E Heeley PN & KG Henschke The Herald & Weekly Times Herbert Geer & Bundle Michael Herskope D Hermann. Stephen Hobbs EJ & KL Holland Geoff Holland Janet M Hornabrook Danielle Hosking Melissa Hoyer JE Huppert Professor John Hutson I Associate Professor Terrie Inder Inside Story Interact Australia Islamic Community Auxiliary Dr A Ivanyi J Jack Brockhoff Foundation Dr Mervyn Jacobson Ben & Ros James JBWere Charitable Trust Shareen & Dean Joel John D & Lyla Harris Foundation John T Reid Charitable Trusts

K Kafig Pty Ltd Anne Kantor Michael & Silvia Kantor Pollyanna Kerdel 4th Kew Scout Troop Kilwinning Trust Jason Kimberley Kimberley Foundation Mrs Sheila Kimpton John Knights A & B Kurowski L Mrs KM Landgren The Leaf Group GA & FJ Lefroy Janet & George Limb John Brian Little Will Lempiere Ruth Leonard Lifework Foundation Geoff Lindsay Tanya Lintzeris Loreto Mandeville Flail Alastair Lucas CW & KJ Lyle M Macquarie Bank Foundation Macquarie Bank Limited Dame Patricia MacKinnon Hamish & Claire MacMillan Anthony E Macvean Fraser Macvean M Mandie Marian & EFI Flack Trust Bernard Marin MR & SK Martin Edwina McCann-Smith Geneine McFarlane Simon McKeon Flamish McLachlan Merrill Lynch Methodist Ladies College Peter L Metzner

James Middleditch The Miller Foundation Mills Oakley Lawyers Minerva Corporation Rosemary Miranda Mitcham Primary School Nigel Morgan Gerry Moriarty The Morris Family Trust Stephen Moulton Dame Elisabeth Murdoch Sandy Murdoch Phillip Myer(RCH Foundation) N National Australia Bank Peter Nelson RC & AL Newton Chela NIall Nicky May CF Research Foundation Terri & Kevin Nolan Stuart Norbury Norman FI Johns Trust 1st North Balwyn Scout Group O Patrick O'Brien Nick O'Flalloran Ryan O'Flare Sarah O'Flare B Ouwerkerk P James D Packer D Page Papercorp Pty Ltd Paritai Pty Ltd Michael Pash Rowly & Judy Paterson J Paul Margi & Rodney Payne Professor David Penington RH & SE Perrins Pierce Armstrong Foundation Mark Podgornik Danielle Poll Mark Poole

Mr WJ Power Pratt Foundation Adrian Pritchard ProAcct Advisors & Accountants Progress Consulting Australia Jenny Proimos Provincial Press Group R RACV Club Radiomarathon Australia Uwe & Anita Radok Sujata Raman Ranoel Pty Ltd CM & PA Reardon Kenneth James Redman Andrew Rettig James Righetti John Righetti Robin Flood Inc Matthew & Julia Rockman Jeremy Rosenbaum Emma Rosenberg DA & NA Ross Marco Rossi Rotary Club of Balwyn Rotary Club of Bendigo

Rotary Club of Echuca Moama Rotary Club of Essendon North Rotary Club of Footscray Rotary Club of Lilydale Bernard Roux Mario Rowarth Mrs Joan Roxburgh JM & SA Royston S SADS Australia Mark Sayer George Scott Darren & Jodie Sekac Dr Jeffery Shapiro Flelen & Flyman Sharp James Shergold Bill Sideris Mrs Susan Sims Singal Pty Ltd John A Sitzler Josh C Slattery Ms BD Sommerville Beverley Soper Morgan Stanley Margrete Steffens Grant R Stephenson Mr RL Stock MA & MA Stone Strathcona Grammar School Mr & Mrs M Strybosch Paul & Kim Swain

ANNUAL REPORT 2003

T Lyra Taylor Fund P & C Taylor T Chin Research Trust Telstra Foundation Templestowe Valley Primary School Kevin Teoh Thalassaemia Society of Victoria M L Thompson Tony Darby & Associates Toorak College Toorak College Junior School Arthur Topalldis U Unde Bobs Club JA & DJ Unkles Patrick & Margaret Upfold V Greg Valles Vermont Secondary College Victoria Racing Club Vista Equities W Henry Walachowski Elli Walker NG & JG Warner Mr Bill White Mr & Mrs WB & MJ White William Angliss Charitable Fund William Buckland Foundation A & G Williams Chris Williams Williamsdale Social Club Professor Bob Williamson Williamstown North Primary School Sharon Willing Nola Woo Wood Marsh Architecture Greg Woolley Dorothy Wright Z Alex Zotos

88 ^ ANNUAL REPORT 2003

Estates Estate of Charlotte M Anderson Estate of Gwen Hunt Estate of Rosalie J Swayn Estate Agnes Tait Robertson Estate of Hazel M Whitelaw In memory of Ned Balaban Rytime Engineering In memory of Elliott & Lewis Bardon Sally Cohen In memory of Lorraine F Bosanquet Peter Cornford & Family P A Thompson In memory of Anna Cappanolo Jeremy King In memory of Rob Chisholm A & S Guardiano In memory of Valmai Downie J & T Downie In memory of Sophie Hoell CMI Forge in West Footcray In memory of Kylie Jacobs Hurford Hardwood Pty Ltd In memory of Michael J Kearns Metz Pty Ltd In memory of Shaun Nicholas Martin Valerie Walsh In memory of Jack McIntyre E Hutchieson & M Nicol In memory of Tony Morrison Mr Harold Adams Mr Jim Bodsworth Mr GV & Mrs SA Brady Simon & Patricia Brown Mr PD Brown Mr RE & Mrs R Cameron Mr Phil & Mrs Helen Carberry PB Carton Ms Eileen Cobham Mr A & Mrs R Costa

Mrs Colleen Cotter Ms Georgia Croker Mr Campbell Davidson BM & MA Demee Ms Angela Doyle Jim & Margaret Dwyer Mr Peter Erland Mrs Frances Farrington Ms Ann Forrest Mr MP & Mrs Lynn French Dell Gibbs & Family DM & Ml Gilmour Ms Shirley Goodall EG & KM Gregory David & Margaret Hollands LA Johnston Mr P & Mrs M Johnston Mr Robert B Jones Mr Vin Liston Mr Winston McDonald Ms Elizabeth Moore Mr John Notaras Terry & Sue O'Malley Polar Group Australia Mr Geoff & Mrs Libby Roberston Laurie Scheele Mr Peter & Mrs Wendy Schkemmer Mr Karim & Mrs Katrina Shehab Janet I Sillar DM Swan J Traynor Mr & Mrs J Woods In memory of Emma Ritchie Robyna Calisthenic College In memory of Robin Scott Len & Ros Brugman Lil Brugman V & V Dolista Shayne Hondow Inverleigh Golf Club Optimum Enterprises G Sadler K & A Scott Margaret & Peter Trebour

In memory of Mrs Shackleton Cheryl & Ron Farrington Bruce Lefroy Centre for Genetic Health Research - Donations Mary Anne Aitken Andrew Armstrong Meg Bonighton Errol Broome Ian & Margaret Brumby David & Christine Burt Brenda & Richard Case Christine A Collingwood Rosie Creswell Sue Darvall Dr Sue Forrest Robert Frost Dr A H Gale Reg Hall J W Automotive Thea Kogler J & V Lange Frances Lefroy George & Joan Lefroy Mr Brian Loton JE Lovegrove Cameron McLeod Neil McPhie Natalie Miller Pat MInta Tim Muschamp Adrian Quilter BG & MJ Radden Ms Mary Remnant Mrs Elspeth Riggall Michael & Angela Rodd Margaret Sahhar John & Leonie Salmons PE & DA Sutherland Andrew Tennant Mrs Yvonne Varey Noel Waite Ian Walker Tony Wells UM Whiteside

Sponsors of The Marquee Oaks Day 2003 Abercrombie & Kent

Harvey Norman

Air Paradise International

HeliMax

Bloom

Hinepolo Academy

Bonds

Mimco

Calibre

Moet & Chandon

Collette Dinnigan

Pearl Bar & Restaurant

Colour Factory

Peter Rowland

Diageo Australia Ltd

People Telecom

DJ Dimension

Pollon Flowers

Edwards Imports

TarraWarra Estate

Emirates

The Mansion Hotel

Fenix Restaurant

Tooheys

Fiji Water

Victoria Racing Club

Harry the Hirer

Victorian Polo Association

We gratefully acknowledge generous pro bono supporters

Deacons Lawyers

<{^ Deacons

1 if-

Design

Printing

Editors

News Custom Publishing

Southern Colour

Narelle Curtis Kate Longton

NEWS CUSTOM PUBLISHING

southern colour^^

Research Institute 4 Murdoch Childrens Research Institute Royal Children's Hospital Flemingtpn Roaci Parkyille Victoria 3052 Australia, Phone: 61 3 8341 6200 Fax; 61 3 9348 1391 vvww.mcn.edu;au ABN 21,'006'566:972

, .

■1