a« ..
ISfliii i
i
.f
m
I
I I
f
HEALTHIER KIDS HEALTHIER FUTURE
fi.
PATRON Dame Elisabeth Murdoch AC DBE DIRECTOR Professor Robert Williamson FRS FAA
( i
/ V
r
4
Organisational Chart
5
Board of Directors
6
Board Committees, Internal Committees
7
Executive Committee
HIGHLIGHTS OF 2002
RESEARCH REPORTS
51
Neonatal Research
24
Adolescent Health
52
Neurosciences
25
Asthma, Allergy & Immune Disorders
53
Orthopaedics & Gait Analysis
26
Allied Health & Nursing, Anaesthesia & Pain Management
54
Public Health & Genetics, Pituitary Research
55
Psychological Development
27
Cancer Biology, Therapies & Trials
56
Surgical Research
9
Chairman & Director's Report
28
Cancer Genomics
11
Our Supporters
29
Cell & Gene Therapy
12
Special Events
30
Cell & Matrix Biology
13
Research Highlights
31
Child Development & Rehabilitation
14
Awards
32
Chromosome Research
15
Funding
33 34
Clinical Epidemiology & Biostatistics Unit Clinical Trials
16
Collaborators, Honorary Fellows
17
Research Leaders
35
Craniofacial Sciences
19
Biotechnology & Commercialisation
36
Community Child Health
20
Management Report
37
Dermal Therapeutics
38
Embryology
39
Enteric Viruses
Genetic Health Services Victoria
65
70
80
OUR TEAM
X
Staff list
O
Genetics Education
85
NHMRC Grants
44
Gut & Liver Disorders
86
MCRI Internal Grants
45
Germ Cell Research, Gut Motility
87
External Grants
89
Donations
Mitochondrial Research
50
Molecular Development
111
X (J
43
49
u Q BC
D
OUR SUPPORTERS
S
I s,
I-
OS. CO
Publications
Gene Identification & Expression
Hormone Research
< IJJ (/)
o
42
Microbiology & Infectious Diseases
Oi
OUR RESULTS
Gene Discovery
47
X
u
u
41
48
I-
Z
Financial Report
Ethics
Heart Research
D
LU
FINANCIAL REPORT
40
46
111
Z
GENETIC HEALTH SERVICES VICTORIA 58
I
ANNUAL REPORT 2002 • 3
Organisational Chart The Board Chairman
Director Professor Robert
Laurence Cox AO
Williamson FRS FAA
Members
Executive Committee
Stakeholders
Internal Committees Career Grant
Board Committees Audit & Finance Commercialisation/IP Investment Research Advisory
Occupational Health & Safety Trainee Research Scholarships Ethics Genetics Education Public Relations
Chief Operating Officer Associate Director Anne Cronin
Laboratory Research Associate Director
Clinical Research
Administrative Support
Cancer Genomics
Associate Directors Professor H Kerr Graham Professor John Hutson
Bioinformatics
Cell & Gene Therapy
Allied Health & Nursing
Building & Scientific Services
Cell & Matrix Biology
Anaesthesia & Pain Management
Commercialisation
Dermal Therapeutics
Financial Sen/ices
Embryology
Grants Office
Enteric Viruses
Graphic Design
Gene Discovery
Human Resources & Industrial Relations
Gene Identification & Expression
Information Technology
Germ Cell Research
Payroll
Hormone Research
Gut & Liver Disorders
Technical Support
Microbiology & Infectious Diseases
Gut Motility
Professor John Bateman
Chromosome Research
Mitochondrial Research
Pituitary Research
8
ANNUAL REPORT 2002
Community Child Health
Cancer Biology, Therapies & Trials
Early Determinants of Health
Child Development & Rehabilitation
International Child Health
Clinical Trials
Public Health & Genetics
Heart Research Neonatal R
Orthopaedics & Gait.: Afralysis
Associate Director Professor Andy Choo
Adolescent Health
Clinical Epidemiology & Biostatistics
Craniofacial Sciences
Strategy
Professor George Patton
Asthma, Allergy & Immune Disorders
Molecular Development
Surgical Research
Public Health Research Associate Directors Professor Frank Oberklaid
) t!
■
Board of Directors , 1
E: • i: ; '
DIRECTORS BRING TO THE BOARD A DIVERSE RANGE OF EXPERTISE ACROSS BUSINESS AND FINANCE, HEALTH AND RESEARCH. THE BOARD PROVIDES DIRECTION AND EVALUATES THE INSTITUTE'S PERFORMANCE.
1
Ul
i
I-
a.
Mr Laurence Cox AO - Chairman
b.
Mr WH Hodgson - Deputy Chairman
c.
Dr Kathy Alexander
d.
Mr Martin Armstrong
e.
Mr Peter Bartels
f.
Professor Glenn Bowes (from October 2002)
g-
Mrs Janet Calvert-Jones AM
h.
t/> u 0^
Mrs Patricia Cross (from December 2002)
</)
Associate Professor Anthony Dart
Z
I*
Ms Jane Fenton
O
k.
Mr Peter Griffin
I.
Mrs Judy Paterson
u
m.
Professor Richard Smallwood AO
u
n.
Professor Geoff Tregear
O.
Professor Robert Williamson FRS FAA
D to
Z X (j
ce <
lU
lU
X X
O Q
D
ANNUAL REPORT 2002
Board Committees
nterna
Committees
Audit & Finance Committee
Research Advisory Committee
Career Grant Committee
Mr WH Hodgson - Chairman
Professor Geoff Tregear - Chairman
Professor Graham Brown - Chairman
Ms Anne Cronin
Mr Martin Armstrong
Professor Glenn Bowes
Professor Andy Choo
Ms Jane Miller
Mr Laurence Cox AO
Dr Georgia Chenevix-Trench
Ms Anne Cronin
Professor Sheena Reilly
Mr David Craig
Ms Anne Cronin
Professor John Hutson
Associate Professor Susan Sawyer
Ms Anne Cronin
Associate Professor Elizabeth Elliott
Professor John Mills
Dr Michael South
Commercialisation/IP Committee
Professor Christopher Fairley
Dr Paul Monagle
Dr David Thorburn
Professor Geoff Tregear - Chairman
Professor Nick Hoogenraad
Professor George Patton
Professor Robert Williamson FRS FAA
Mr Martin Armstrong
Professor John Hopper
Professor Robert Williamson FRS FAA
Ms Linda Berry
Professor Frank Oberklaid
Ms Anne Cronin
Professor Brian Oldenburg
Mr Bob Moses
Professor George Patton
Mr George Raitt
Professor Sheena Reilly
Investment Committee Mr Peter Griffin - Chairman Mr Laurence Cox AO Mr David Craig
Associate Professor Andrew Sinclair Dr Mimi Tang Associate Professor Euan Wallace Professor Robert Williamson FRS FAA
Occupational Health & Safety Marisa Fielding - Chairman Andrea Bigham Jamie Fitzgerald Alana Neale Wendy Hutchison Robyn McNeil Suzana Metaxas
Mrs Patricia Cross
Frances Oppedisano
Mr Josef Czyzewski
Janet Shaw
Mr Simon Dighton
Helen Wilmore
Mr Ian Miller
Trainee Research Scholarships Committee
Mr John Nickson Mr Ian Veal
Professor Geoff Tregear - Chairman Associate Professor Vicki Anderson Professor Graeme Barnes Professor Glenn Bowes
ANNUAL REPORT 2002
Professor John Carlin
iy
Executive Committee a.
Professor John Bateman Associate Director, Laboratory Research
b.
Professor Andy Choo Associate Director, Strategy
c.
Mr Laurence Cox AO MCRI Chairman
d.
Ms Anne Cronin Associate Director, Operations
e.
Professor John Hutson Associate Director, Clinical Research
f.
Professor H Kerr Graham Associate Director, Clinical Research
g-
Professor George Patton Associate Director, Public Health
h.
Professor Frank Oberklald Associate Director, Public Health
i.
Professor Robert Williamson MCRI Director
a.
b.
Invited to attend Professor Glenn Bowes Stevenson Professor of Paediatrics University of Melbourne Dr Tony Cull Executive Director Royal Children's Hospital (from October 2002) Associate Professor Susan Sawyer Acting Head Department of Paediatrics University of Melbourne (until October 2002)
ANNUAL REPORT 2002
IK
SiMhiSsi
%
C;; V%
chairman & Director's Report 2002 WAS AN EXCITING YEAR FOR THE MURDOCH CHILDRENS RESEARCH INSTITUTE. WE ADVANCED OUR WORLD-CLASS RESEARCH PROGRAMS AND LAUNCHED IMPORTANT, NEW RESEARCH INITIATIVES. THESE CONTRIBUTED TO THE REALISATION OF OUR VISION OF A WORLD WHERE THE HEALTH OF EVERY INFANT, CHILD AND ADOLESCENT IS VALUED AND WHERE THE DELIVERY OF RESEARCH TO THE COMMUNITY PROMOTES THE BEST HEALTH OUTCOMES.
\
r
Funding for thie future of our dnildren
Facilities as a foundation for the future
In 2002, the Murdoch Childrens Research Institute competed against the best research teams in the world to win a number of significant new Australian and International grants, attracting more than $20 million for our research. Twenty-three new awards from the National Health and Medical Research Council, which commence in 2003, will ensure we continue to develop innovative treatments for sick children.
As well as being successful in attracting research funding, we also attracted funds for our research facilities. Atlantic Philanthropies, an international foundation that identifies and supports leading institutions dedicated to learning, knowledge-building and solving social problems, has awarded a grant of $25 million to MCRI and the Royal Children's Hospital Foundation. This is for the building and fitting of new research facilities.
We congratulate all the Murdoch Childrens Research Institute researchers who were granted funds. We recognise in particular Professor Henrik Dahl and Dr Melissa Wake, who were awarded more than $1 million from the US government to study hearing loss in children.
The generous donation, which is dependent on us raising matching funds, will enable us to build better facilities for our researchers who have managed to produce world-class research in what have been less than world-class conditions. New accommodation will enhance the facilities for existing research projects and allow us to advance our position as a world leading medical research institute in child health and genetics.
Also, Professor Andy Choo, Dr Richard Saffery and Dr Lee Wong who were awarded the largest of 15 biotechnology development grants from the Federal Government. This award will help to ensure that commercialisation of our 'mini chromosome' gene therapy technology can continue in Australia — an important priority for MCRI.
I
The greatly appreciated support of Atlantic Philanthropies will also provide new impetus for our international health research, which aims to improve child health in developing nations through sharing of knowledge, resources and people.
ANNUAL REPORT 2002
9
A year of expansion and achievement This was a year of expansion. We continued to attract high-quaiity researchers, both iocaiiy and from overseas, and deveioped new initiatives as diverse as the Austraiian Chiidren's Heart Research Centre and a new project to find the causes and best treatment for stuttering. Our ciinicai researchers continued to advance cutting-edge technoiogies to save the iives of the sickest chiidren and prevent serious chiidhood diseases. This research has had direct benefits for
patients in the Royai Chiidren's Hospitai, for the broader Austraiian community, and for chiidren in the Austraiia-Pacific Region. The internationai caiibre of our researchers, and their remarkabie commitment to chiid heaith, was evident in their achievements during 2002. Our staff fiied five new patents for biotechnoiogy and pubiished 380 papers in top peer-reviewed journais inciuding Nature, British Medical Journai and The American Journal of Human Genetics. We are particuiariy proud of those MCRi researchers who were recognised externaiiy for their achievements. Dr Karen Tiedemann, a cancer speciaiist, was awarded a Medai of the Order of Austraiia. Professor Andrew Sinciair, a moiecuiar bioiogist, was elected President of the Australian Society for Medical Research, and Professor George Patton's adolescent health research team was awarded a VicHealth Award for Excellence in Health Promotion.
In the current global health climate, in which stem cells, cloning and DNA testing have been at the forefront of research news, we continued to address key ethical issues, promoting public discussion and debate. We also made a substantial contribution to education with more than 100 honours and post-graduate students. It is important to continue to be seen as key advisers to governments and the professions on health policy for infants, children and adolescents and recognise that this is essential to secure the future of the Institute, and the health of future generations. None of this can be achieved without the partnership and commitment of the Royal Children's Hospital and the University of Melbourne and the good will of all those who support the Institute. We look fonA/ard to working together in 2003 to create a healthier future for all children.
These awards are very well deserved, and demonstrate the diversity and strengths of our talented staff. A leadership role The Murdoch Childrens Research Institute has an important public leadership role in helping to address community health issues that have a major impact on the health and well being of Australian children and adolescents. This year, we contributed significant research addressing issues of serious community concern like obesity, asthma, infectious diseases, adolescent eating disorders, drug use and mental health.
ANNUAL REPORT 2002
Mr Laurence G Cox AO Chairman
Professor Robert Williamson FRS FAA Director
.. '
V
CM O
o CM
O (/> X
o X
o
Our Supporters The shared vision and support of the Royal Children's Hospital, and our partnership with the University of Melbourne, were integral to our success in 2002. Through the Good Friday Appeal, which raised more than $8 million, the people of Victoria expressed their commitment to this campus, ensuring the excellent child health care delivered by the Royal Children's Hospital Is underpinned by world-class research from the Murdoch Childrens Research Institute.
I
The Jack Brockoff Foundation, Miller Foundation, Helen Macpherson Smith Trust, Scobie and Claire Mackinnon Trust, Pratt Foundation, Beyondblue, Perpetual Trustees, ANZ Trusts, Telstra Foundation Garnett Passe and Rodney Williams Memorial Foundation and many other charitable foundations generously supported our research in 2002.
m'.'.
The Federal Government funded many of our projects through the National Health and Medical Research Council (NHMRC) and the Victorian Government through the Department of Human Services, Department of Health and Aged Care and VicHealth. International funding was awarded from Atlantic Philanthropies, the National Institutes of Health (USA), Wellcome Trust (UK), Juvenile Diabetes Foundation (USA) and Muscular Dystrophy Association (USA). Our Patron Dame Elisabeth Murdoch AC DBE was our Guest of Honour at a luncheon to celebrate the opening of the new MCRI Research Administration and Communications Centre. The Murdoch family demonstrated a financial and personal commitment to the Institute — Janet Calvert-Jones and Judy Paterson continued to serve as Directors of the Board, while David and Karina Calvert-Jones helped establish a Development Board with our ambassador Sarah O'Hare. ANNUAL REPORT 2002
■i
X
1 1
Specia •
Events
Dame Elisabeth Murdoch hosted a luncheon at MCRI to celebrate the opening of our new Research Administration and Communications Centre
• The dedicated MI7 committee held another successful Shelley Beach Tennis Classic, with proceeds funding new equipment for Terrie Inder and her neonatal neurology team
'N?
•
• Vital funding for Freidreich Ataxia research was raised through a fundraising cocktail party at The Forum, driven by our enthusiastic YAFFA committee •
fmm & M
m •
A
Natasha Stott Despoja was guest speaker at our first National Genethics Competition, providing a forum for secondary students to voice their opinions on 'making babies to save lives'
12 ^ ANNUAL REPORT 2002
Minister John Thwaites launched the Australian Children's Heart Research Centre, which will help our world-class team of cardiologists and cardiac surgeons conduct research into treatments for children with heart disease
MCRI hosted members of the Young Presidents' Organisation for a symposium on genetic research and biotechnology
• AMA President Dr Kerryn Phelps opened the inaugural Australian and New Zealand Adolescent Health Conference, hosted by the Centre for Adolescent Health •
Robin Hood Inc and the Whroo Polo Club held a Charity Christmas Cocktail Party to raise money for research into new therapies for children with asthma
• Generous Victorians donated over $8 million through the Good Friday Appeal to the Royal Children's Hospital •
Mr Philip Myer donated $300,000 for research into the causes of stuttering, a condition that affects about 5 per cent of children
•
Many generous donations funded new state-of-the-art cancer treatment and research facilities
• Our ambassador Sarah O'Hare donated royalties from the book 'What Women Want' •
Bob Williamson launched our new Centre for Child Neuropsychological Studies, which will improve our understanding of the difficulties experienced by children who suffer from conditions affecting the brain
Research Highlights MCRI researchers published more than 380 peer-reviewed papers in international journals Commercialisation of our research was a focus — five new patents were filed during 2002 Adolescent Health researchers received a VicHealth Award for Excellence in Health Promotion for the 'Changing Cultures' project Bob Williamson and ethics PhD student Rony Duncan published an article on DNA testing in Nature, generating significant media interest and public debate 'One World Health' was formed to study cancer and infectious diseases in countries that do not have the resources to do research themselves Chromosome researchers further developed 'mini chromosomes' as a novel tool for the delivery of therapeutic genes in human gene therapy Terrie Inder collected the world's largest cohort of babies with early brain injury, for innovative research using advanced imaging techniques More than 22 clinical drug trials were completed, commenced or in the pipeline during 2002 — this will ensure quality use of medicines in children International interest was sparked by research from the Centre for Adolescent Health linking cannabis use and later depression in teenage girls
Our Gene Discovery team secured a full patent on genes associated with an ADHD-like condition We continued to make a substantial contribution to education, with more than 100 honours and postgraduate students at MCRI Adolescent Health researchers began collaboration on a $US 5 million International Youth Development Study, aiming to find the impact of school policy on youth behaviour Our Cord Blood Bank increased its service to the transplant community, with 2845 umbilical cord blood units stored for use by transplant centres across the globe, and 24 units released for transplantation Dr Katie Allen and her team developed a new treatment for sufferers of liver disease, which involves transferring healthy human cells into diseased liver in order to rejuvenate the organ Our Gut and Liver Disorders team completed a five year study of chest physiotherapy, producing important outcomes for chest disease in children Andrew Sinclair and his team identified 74 candidate testis genes and nine potential ovary genes, advancing their research into children of uncertain sex
ANNUAL REPORT 2002
m
Awards •
Bob Williamson was elected a Fellow of the Academy of Medical Sciences of the UK, becoming the first Australian Fellow of this prestigious body
•
Ethics program Director Professor Julian Savulescu accepted a prestigious post as Uehiro Chair in Applied Ethics at Oxford University
• Andrew Sinclair was nominated as President-Elect of the Australian Society for Medical Research
1 • Jocelyn Van Den Bergen was awarded the prestigious Dean's Prize for Honours from the University of Melbourne, Faculty of Science • John Bateman was nominated as President-Elect of the International Society for Matrix Biology •
• • A Medal of the Order of Australia was awarded to Dr Karen Tiedemann from our cancer research team, who helped to establish t;M:i a bone marrow transplant unit cord blood bank at the RCH
•
ANNUAL REPORT 2002
____................s.
• Andy Choo was invited to join the Editorial Board of two internationally-reputed journals Genome Research and Chromosome Research, and appointed founding deputy editor of Cell and Chromosome
Kerr Graham was awarded 'Best Basic Science Paper' at the Annual Meeting of the Paediatric Orthopaedic Society in North America Lyndal Thomas won the International Society for Clinical Biostatistics Student Conference Award
|
Kerr Graham and Richard Baker were invited to be keynote speakers at the European Society for Movement Analysis in Adults
•
Carl Kirkwood was awarded the Philip Bushell postdoctoral research fellowship of the Gastroenterological Society of Australia
•
Merle Spriggs was appointed Associate Editor of Current Controversy in the Journal of Medical Ethics
• Alexandra Gason won the student prize at the Human Genetics Society of Australasia conference
if■■
i:.
.. . (V
o o cx u.
O in
X
o
X
o
X
Funding • )
I
MCRI was awarded nine project grants, five fellowships, three career development awards and six research training awards by the National Health and Medical Research Council (NHMRC)
• We increased our research grant income to over $20 million •
Melissa Wake and Henrik Dahl were awarded an NIH grant of more than $1 million to study mild hearing loss in children aged 6-12 years
• Our Chromosome Research Team was awarded the largest of 15 NHMRC New Development grants for its work on the mini chromosome
•
Our Molecular Development Team was awarded an Australian Research Council National Centre of Excellence grant of $10 million
• Grants from NHMRC and NIH totalling over $5 million will enable our Asthma researchers to investigate alternative regimes for pneumococcol vaccination of infants in developing countries
• Andrew Kornberg was awarded a prestigious Muscular Dystrophy Association USA grant for his research into gene correction, which may lead to treatments for children with Muscular Dystrophy •
Don Newgreen was awarded a US Department of Defence IDEA grant for his research into breast cancer invasion
• Our Gene Identification and Expression team were awarded funds from the Garnett Passe and Rodney Williams Memorial Foundation to investigate the use of stem cell therapies for deafness
I, ANNUAL REPORT 2002
• -
I
Major Collaborators & Honorary Fe ows Major collaborators
Honorary Fellows
Austin and Repatriation Medical Centre
Professor Michael Aldred
Baker Medical Research Institute
Professor Jim Camakaris
Brain Research Institute
Professor Dick Cotton
Centre for Medical Ethics, Oxford
Professor Simon Foote
CSIRO, Health Sciences and Nutrition
Professor Susan Forrest
Deakin University
Professor Nick Hoogenraac
Department of Human Services
Professor John Hopper
Genetic Support Network Victoria
Professor Ed Janus
Howard Florey Institute
Professor Ismail Kola
La Trobe University
Professor Julian Mercer
Melbourne Neuromuscular Research Institute
Professor Terry Nolan
Menzies Centre for Population Health Research
Professor Roger Short
Monash Institute of Reproduction and Development
A/Professor Lach de Crespigny
Monash University
Dr Jane Burns
National Health and Medical Research Council
Dr David Mackey Dr George Rudy
National Institutes of Health, USA Royal Children's Hospital St Vincent's Institute of Medical Research Sydney Children's Hospital Walter and Eliza Hall Institute of Medical Research World Health Organization University of Melbourne University of Sydney VicHealth
16 ^ ANNUAL REPORT 2002
y|
Research Leaders
r wi.-
Adolescent Health
Child Development & Rehabilitation
Dermal Therapeutics
Professor George Patton
Associate Professor Dinah Reddihough
Dr Christopher Wraight
Chromosome Research
Disease Models
Professor Andy Choo
Dr Kerry Fowler Embryology
Professor Sheena Reilly
Clinical Epidemiology & Biostatistics Unit
Associate Professor Linda Johnston
Professor John Carlin
Anaesthesia & Pain Management
Dr Ruth Morley
Dr Chris Bolton
Dr Sue Skull
Asthma, Allergy & Immune Disorders
Clinical Trials
Dr Mimi Tang
Associate Professor Noel Cranswick
Professor Andrew Kemp
Community Child Health
Professor Julian Savulescu
Dr David Hill
Professor Frank Oberklaid
Professor Bob Williamson
Cancer Biology, Therapies & Trials
Dr Melissa Wake
Associate Professor David Ashley
Dr Elizabeth Waters
Dr Christine Hawkins
Craniofacial Sciences
Dr Ngaire Elwood
Associate Professor Nicky Kilpatrick
Dr Lyndal Bond Associate Professor John Toumbourou Allied Health & Nursing
Dr Elizabeth Algar Dr Simon Bol Cancer Genomics Associate Professor Deon Venter Cell & Gene Therapy Associate Professor Panos loannou
o o CN
Dr Donald Newgreen
II.
o
Enteric Viruses
in
Professor Ruth Bishop
X
o
Professor Graeme Barnes
X O X
Dr Carl Kirkwood Ethics
Gene Discovery Dr Michael Lynch Dr Richard Anney Gene Identification & Expression Associate Professor Henrik Dahl Genetics Education Dr Sylvia Metcalfe Dr MaryAnne Aitken Germ Cell Research Dr Sue Hasthorpe
Cell & Matrix Biology Professor John Bateman Dr Amanda Fosang
ANNUAL REPORT 2002 •
-
& Liver Disorders?
,
■■
■Neonatal Research
SjiiJTSUpHIl
Associate Professor Tony Catto-Smith
Professor Colin Morley
Professor Kerr Graham
Associate Professor Julie Bines
Dr Peter Dargaville
Associate Professor Richard Baker
Dr Peter Davis
Roslyn Boyd
Associate Professor Andrew Kornberg
Dr Paul Thdi
Dr Bridget Southwell r.-; ■ r?
Associate Professor Terrie Inder
Professor Dan Penny
Dr Simon Harvey
Dr Christian Brizard
Dr Ric Leventer
e levelopment
Professor Vicki A Professor Margo Dr Elisabeth Nor
Professor George Werther Dr Fergus Cameron Associate Professor Garry Warne
r Jane Hallidayi
Dr Vincenzo Russo '4-,-
Associate Professor Colin Robertson Professor Kim Mulhollai Dr Jonathan Carapetis
m Professor John Hutson
jfe§;Ildus Diseases
Professor Roy Robins-Browne Professor Sue Garland Dr Kumar Visvanathan -f'-
Mrch Dr David Thorburr
Associate Professor Andrew Sinclair
18 ^ ANNUAL REPORT 2002
Biotechnology & Commercialisation
.-i:
THIS WAS A YEAR OF NEW INITIATIVES AND CONTINUED DEVELOPMENT OF THE INSTITUTE'S COMMERCIALISATION STRATEGIES. Ausgenics Pty Ltd es o o
An MCRI spin-off company has been established to raise funds for the future development of the human artificial chromosome (HAC) project of Professor Andy Choo and his team. During the year, MCRI and AMRAD signed off on an agreement on the future commercialisation of the project. The project IP was reassigned back to MCRI from AMRAD and subsequently novated into Ausgenics. Ausgenics was successful in winning a Biotechnology Innovation Fund (BIF) grant of $250,000 and subsequently developed a Business Plan. Dr Flugh Niall has been appointed as a consultant to Ausgenics.
CN IL
O i/i
I-
I
o X
o X
POSSUM syndrome diagnostic software The development of a web-based version of POSSUM continued in partnership with Adacel Ltd, and is eagerly awaited by the worldwide genetics community. As part of a strategy to broaden the base of users into the wider community of paediatrics and radiology, a market research plan was developed. This plan has been adopted and will be implemented in 2003. Flearing loss chip Dr Kirby Siemering and A/Professor Henrik Dahl developed a microassay (biochip) that simultaneously detects mutations in multiple patient samples for the four most common deafness-causing genes. A market opportunity exists for the technology to play a role in programs being introduced in the US, UK and Australia for universal newborn screening for
deafness. A strategy for the identification and follow up of potential commercial partners has been implemented, and is being pursued with the assistance of consultants (Commercialise Pty Ltd). New patents •
International Patent for a molecular marker that may be predictive of arthritis (Ceil & Matrix Biology Group)
•
US Patent for a method of genetic selection (Cell & Gene Therapy Group)
•
International Patent for a molecular marker of the behavioural disorder ADHD (Gene Discovery Group)
• Australian Provisional Patent for a diagnostic assay (Gene Identification & Expression Group) • Australian Provisional Patent for genetic therapy and genetic modification (Chromosome Group)
Anne Cronin — Chief Operating Officer cronin@cryptic.rch.unimelb.edu.au
ANNUAL REPORT 2002
i”
STRATEGIC ISSUES AND PLANNING HAVE BEEN THE FOCUS OF MCRI OPERATIONS, NOW THAT THE MERGER HAS BEEN BEDDED DOWN. OUR MOVE TO THE NEWLY-REFURBISHED ADMINISTRATION AND COMMUNICATION CENTRE ON LEVEL 9 HAS BROUGHT A NEW FOCUS TO OUR OPERATIONAL CAPACITY. THE SIGN-OFF WITH CONTRACTORS FOR THE NEW MCRI/RCH RESEARCH FACILITY IN DECEMBER 2002 WILL ALLOW CONSTRUCTION TO BEGIN IN 2003. Financial Services Increased success in gaining external grants added to the connplexity of the task of financial management. The finance team, led by Viren Abeyasinghe, initiated financial processes to optimise support for research groups and to allow them to control the ongoing management of their research budgets. In July 2002 we successfully moved to a new SAP payroll system, which required a great effort by all finance and payroll staff, particularly Debbie Zombolas. The SAP service provider complimented MCRI staff on having impressively managed this process. Public Relations and Communications
m M
M
REPORT 2002
With the focus on better informing our stakeholders and the community, we spent a challenging year developing our marketing communications and media strategy. Our quarterly newsletter was targeted to informing supporters, government and the community of the tangible outcomes of their vital funding — world-class researchers developing innovative programs and treatments to improve child health. We also initiated the formation of a Development Board to help direct public relations activities and to engage a new generation of supporters for MCRI. Taking a leadership role in broadening community interest and support for
research through good media relations was a key priority. We further developed our position as key representatives in the media on child health, genetics and ethics. A series of media training workshops run by Dr Narelle Curtis successfully empowered many of our senior staff to be confident media spokespeople. As a result, MCRI enjoyed widespread print and broadcast media coverage across all areas of research. Human Resources & Industrial Relations During 2002 we began a review of our performance review process, aiming to design a system uniquely suited to MCRI and Genetic Health and specifically targeted to the various position groupings and appointment levels currently in place. The system should motivate and recognise good performance, contribute to our position as an employer of choice and fully utilise career development. We acknowledge the expert assistance of Mr Bob Lang in this process. We introduced a number of initiatives around equal employment opportunity (EEO). Our Gender Equity Committee reviewed policies and formulated a survey to gather employees' views on EEO in the workplace. Survey feedback has helped us to address issues related to inequality and to develop ways to redress any perceived discrimination. A number of training initiatives were introduced, including "Conducting a
4
I I
Successful Interview" and harassment and discrimination training. Kathryn Bellion was welcomed to the team midyear. Grants Management The work of the Grants Office managed by Julia Malone has expanded in parallel with the number of research groups seeking support. An internal mentor program was established to assist researchers in maximising the effectiveness of their applications, and most researchers have used the system. Plans are being developed for future resourcing of grants management.
r
Design and Support Services Our support teams worked quietly to provide essential services to researchers. Their technical skills underpin the successful operations of MCRI and we acknowledge their contribution.
a.
Viren Abeyasinghe Finance Manager
b.
Kathryn Bellion Human Resources Manager
o
c.
Dr Narelle Curtis Public Relations Manager
o
d.
Marisa Fielding OH&S Manager
e.
Barry Holt Building & Development Manager
f.
Julia Malone Grants Officer
g.
Kylie Morrell Executive Assistant
h.
George Teng Information Technology Manager
Information Technology The expansion of MCRI over the past two years has placed considerable strain on our IT services and infrastructure. The increasing importance of 'Bioinformatics' has impacted significantly on network storage and traffic flow and will require improvements in bandwidth capacity. Another important issue has been provision of remote access for the many researchers who travel or work away from MCRI. Working with specialised consultants, we will ensure our strategy provides the optimum solution. George Teng and his team are recognised for their skill, resourcefulness and quick responses to Help calls. Building and Scientific Services Building and development projects are on track to be completed within the expected timeframes. Barry Holt has overseen the renovation of space vacated by Operations. The Genetic Epidemiology team and the Genetic Education team were relocated to newly refurbished accommodation on level 10 in September and November. This year we implemented the compliance procedures required by legislation for the regulation of gene technology and GMOs. As one would expect, these requirements are complex and detailed, and Marisa Fielding has made a much-appreciated effort in this area.
I
ts o o cs u. O (/>
Anne Cronin Chief Operating Officer cronin@cryptic.rch.unimelb.edu.au ANNUAL REPORT 2002 i 21
z
X
X
RESEARCH REPORTS
.-4 Youth in general practice GPs who received training in adolescent preventive health care five years ago were re-visited to assess whether learning has been sustained long term. Results will inform future training design, provide knowledge on sustainable change and identify factors supporting preventive care. International youth development study Information on risk factors for substance use and abuse has been collected from Year 5, 7 and 9 students In Victoria and Washington, USA. This international collaboration will answer questions about similarities and differences in initiation, progression and maintenance of drug use behaviours.
Adolescent Health
Research outcomes •
Found that frequent cannabis use in teenage girls predicts later depression and anxiety
THE HEALTH AND EMOTIONAL WELLBEING OF YOUNG PEOPLE IS A KEY PUBLIC HEALTH PRIORITY. WE INVESTIGATE THE MANY FACTORS INVOLVED IN OUTCOMES SUCH AS DRUG ABUSE, SUICIDE AND INFECTIOUS DISEASES. WE DESIGN AND EVALUATE INTERVENTIONS TO IMPROVE THE LIVES OF YOUNG PEOPLE IN GENERAL AND THOSE WITH SPECIFIC HEALTH ISSUES OR WHO ARE SOCIALLY DISADVANTAGED.
•
Found that deaths in young offenders contribute one in nine of all Victorian drug-related deaths
•
Use of standardised patients in GP training produced a significant impact on learning
Research overview
•
Our 'Changing Cultures' project received VicHealth Award for Excellence in Health Promotion
•
Lyndal Thomas won the International Society for Clinical Biostatistics Student Conference Award
•
Melissa O'Shea was awarded her PhD
Much of the burden of adult disease arises from health problems and lifestyle choices first evident in adolescence. Our research encompasses population-based epidemiology, implementation and evaluation of preventative interventions, and clinical research. Current studies address the prevalence, distribution, natural history, health and psychosocial consequences of health risk behaviours.
depression by building cognitive skills, supportive school environments and student support. Young offenders We began interviewing 500 young people with a juvenile justice order to examine relationships between continued offending and depression, substance abuse and other social factors. This work will inform planning of preventative interventions for these socially excluded young people.
Highlights of the year
Major sponsors • National Health and Medical Research Council • VicHealth
Beyondblue schools research initiative
•
Perpetual Trust
This national study builds on the work of the Gatehouse Project to evaluate a school-based intervention designed to lower the prevalence of
•
National Institute of Drug Addiction
24 § ANNUAL REPORT 2002
Group Leaders Professor George Patton george.patton@rch.org.au
Dr Lyndal Bond Associate Professor John Toumbourou
Ji lK:
Asthma, Allergy & Immune Disorders ALLERGIC DISEASES SUCH AS ASTHMA, ECZEMA AND FOOD ALLERGY ARE MAJOR HEALTH PROBLEMS, AFFECTING AS MANY AS ONE IN THREE AUSTRALIAN CHILDREN. WE EXAMINE THE IMMUNE AND ENVIRONMENTAL ABNORMALITIES THAT LEAD TO ALLERGIC DISEASE IN ORDER TO IMPROVE DISEASE MANAGEMENT OR PREVENT DISEASE ONSET Research overview
Cytokines and resolution of asthma
Studies of cytokine responses in childhood allergic disease demonstrated that T-cell cytokine responses to allergens develop beyond the first two years of life, which challenges the current belief that allergen-specific responses are determined in early life. We examined the immunological mechanisms that lead to the development of lung inflammation in asthma. Novel treatment strategies to inhibit airway inflammation in asthma were investigated. We examined the role of food protein hypersensitivity in infant colic, gastro-oesophageal reflux and eczema, and tested the benefit of hypoallergenic elimination diets to treat these conditions.
A long-term follow-up study of asthma patients demonstrated that resolution of asthma symptoms was associated with normalisation of Thi but not ThZ cytokine responses. This suggests that Thi cytokines may play a key role in the immunological changes leading to resolution of asthma.
Development of allergic disease In studies of early life influences in the development of allergic disease, the use of synthetic bedding in infancy was shown to be associated with an increased incidence of allergic sensitisation and asthma in childhood, while the use of feather doonas was protective. These findings have led to an intervention study of feather bedding for the prevention of asthma. Antisense therapy for asthma
I
We evaluated a novel therapy for asthma, using antisense molecules to target cytokine or adhesion molecules. Antisense molecules targeting IL4 or ICAM-I were shown to inhibit airway inflammation in an animal model of asthma.
(/) OC
O CL
lU
Of T U
Research outcomes • Asthma resolution is associated with changes in Thi but not ThZ cytokines • Antisense therapy targeting IL4 or ICAM-1 may effectively treat asthma •
Cytokine responses to allergens are not necessarily determined in infancy
•
Infant colic may be caused by hypersensitivity to food proteins excreted in breast milk — elimination of these proteins from the mother's diet improved symptoms within one week
Major collaborators •
Professor Kim Mulholland, Dr Jonathan Carapetis and Dr Fiona Russell
•
National Centre for Epidemiology and Public Health
Flighlight of the year • Awarded NHMRC and NIH (USA) grants totalling over $5 million to investigate alternative regimes for pneumococcal vaccination of infants in a developing country
Group Leaders Dr Mimi Tang mimi.tang@wch.org.au
Major sponsor •
UCB Pharma, Belgium
Professor Andrew Kemp Dr David Hill
ANNUAL REPORT 2002
Allied Health & Nursing OUR RESEARCH COVERS A DIVERSE RANGE OF DISCIPLINES, EACH V^ITH ITS OWN FOCUS AND EXPERTISE. WE SHARE THE COMMON OBJECTIVE OF IMPROVING ALL ASPECTS OF CARE DELIVERED TO CHILDREN AND THEIR FAMILIES. Brain reorganisation in hemiplegia Children who sustain a stroke can have lifelong difficulties using their arms, affecting independence and vocation. This research is gaining insight into how the brain reorganises after peripheral treatments for hemiplegia. Improving arm and leg function Children with spastic diplegic cerebral palsy have reduced muscle coordination in their arm and leg movements due to abnormal muscle tone. We investigated the effects of task-specific, fine motor and lower-limb strength training on arm and leg function in children with this condition.
Music therapy This multi-disciplinary research project investigated the effects of music therapy in infants who have undergone surgery. Highlights of the year • Awarded an NHMRC grant for a longitudinal study of developmental language problems • Received a donation of $300,000 from Mr Philip Myer for research into the causes of stuttering
Group Leaders Professor Sheena Reilly s.reilly@latrobe.edu.au Associate Professor Linda Johnston 26 § ANNUAL REPORT 2002
Anaesthesia
& Pain Ma nagement WE ARE COMMITTED TO EVALUATING PAEDIATRIC ANAESTHESIA AND PAIN MANAGEMENT PRACTICES TO IMPROVE THE CARE OF CHILDREN BEFORE, DURING AND AFTER THEIR OPERATIONS. EACH YEAR, ALMOST 1 7,000 CHILDREN UNDERGO PROCEDURES AT THE ROYAL CHILDREN'S HOSPITAL, MANY OF WHICH INVOLVE SIGNIFICANT RISKS. Research overview
Major collaborators
Our research targets all aspects of the care of children undergoing surgery. We investigate new drugs and procedures, the depth of anaesthesia by monitoring brain waves, and the best ways to control pain following an operation. We assess a wide range of outcomes, including patient and parent satisfaction, as well as the usual clinical outcomes.
• School of Public Health, University of Melbourne Major sponsors • National Health and Medical Research Council • ANZ College of Anaesthetists • Helen MacPherson-Smith Trust
Group Leader Dr Chris Bolton chris.bolton@rch.org.au
r
Cancer Biology, Therapies & Trials
I
OUR RESEARCH INTO THE GROWTH OF CANCER CELLS AND THEIR RESISTANCE TO TREATMENT FACILITATES DEVELOPMENT OF NEW DIAGNOSIS AND TREATMENT STRATEGIES. CELL TRANSPLANTS BOOST THE BODY'S ABILITY TO KILL CANCER CELLS OR REPLENISH THE BLOOD AFTER THERAPY, IMPROVING THE HEALTH OF CANCER PATIENTS.
</) Qi
I
Research overview
BMDI National Cord Blood Bank
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.
The Cord Blood Bank continued to increase its service to the transplant community, with 2845 cord blood units stored for use by national and international transplant centres. Since its inception, the Bank has received requests for information on 300 cord blood units for 200 patients, of which 24 proceeded to transplant. Follow-up studies will determine engraftment, cure and survival rates.
Cancer vaccine testing
Stem cell biology
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.
The major limitation to the use of umbilical cord blood is the low number of stem cells available. It would be helpful if we could expand the cord blood stem cells in culture. We have investigated the effect of enforced expression of a gene controlling cellular lifespan on stem cell expansion.
Cell suicide Controlled cell suicide normally eliminates pre-cancerous cells. Anti-cancer therapies trigger this self-destruction 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 • Trialed a tumour-derived dendritic cell vaccine • •
Determined glioma cell responses to anti-cancer treatments
O a.
• Analysed factors affecting umbilical cord blood stem cell lifespan •
u oc
Released 24 umbilical cord blood units for transplantation
Z
u D£
<
Highlight of the year
lU l/>
• Very generous donations from Nufarm, My Room, CCC Foundation, Ernest & Young, and anonymous donors funded new state-of-the-art cancer treatment and research facilities
Ul
a
Major sponsors •
National Flealth and Medical Research Council
• Australian Research Council •
Pediatric Brain Tumor Foundation USA
•
Inner Wheel Foundation
•
Cancer In Kids Auxiliary
•
Leukaemia Auxiliary of the Royal Children's Hospital
•
Leukaemia Research Fund
•
Bluey Day Foundation
Developed molecular diagnostic tests for cancer
Molecular oncology
1
We identified and characterised genes that regulate cell growth. Genes associated with abnormal control of cell proliferation, differentiation and death may be important in cancer initiation or progression.
Group Leaders Associate Professor David M Ashiey ashieyd@cryptic.rch.unimelb.edu.au
J
i
Dr Christine J Hawkins Dr Ngaire J Elwood Dr Elizabeth Algar Dr Simon J Bol ANNUAL REPORT 2002
i
Cancer Genomics WE USE HIGH-DENSITY DNA SLIDES (MICROARRAYS) TO STUDY THE ACTIVITY OF MANY THOUSANDS OF GENES AT ONCE. THE GENE EXPRESSION PROFILE OF A CANCER OR DISEASED CELL GIVES US A GREATER UNDERSTANDING OF THE DISEASE RESULTING IN FASTER DIAGNOSIS AND BETTER TREATMENT.
• Victorian Breast Cancer Research Consortium, University of Melbourne •
Erasmus University, Rotterdam
•
University of Cape Town Medical School
Major sponsor Research overview
Research outcomes
We identify the key drivers to a range of diseases through the use of array-based technologies. These include gene expression analysis, array-based CGH, in-house bio-informatics software, data mining tools, high capacity data-visualisation packages and high-throughput molecular pathology. The disease profile generated implicates a selection of genes in the disease, candidate drug targets and novel diagnostic markers. Our genome-scaled approach also yields in-depth knowledge of the fundamental drivers of disease development.
•
Established and began to validate array CGH from archival tissue samples
•
Profiled the immune system response of patients with a history of septicaemia and rheumatic heart disease
•
Established a research project to study the genetic basis of paracetamol toxicity in children
•
Purchased a robotic microarray printer, bringing cutting edge technology to MCRI
Novel diagnostic and therapeutic targets
•
Pioneered new techniques to assess genomic changes in fresh and archival samples
•
Creation of One World Health to study cancer and infectious diseases in countries that do not have the resources to study these diseases themselves
This project has a broad focus on a range of cancer types. We have already found several new genes that appear to be driving the development of several cancer types. We are now characterising these genes as a prelude to studying their expression in tumours from hundreds of cases. As we increase the range of cancers we study, we can identify those rare important genes whose activity is implicitly required or removed across many cancer types. Causes of rheumatic heart disease With the dose involvement of the Aboriginal community in the Northern Territory, we have tested people with and without a history of rheumatic heart disease to identify the reasons why some Aboriginal children are more at risk of rheumatic heart disease. 28 ^ ANNUAL REPORT 2002
Highlights of the year
Major collaborators •
Biolateral Inc
•
Monash Institute of Reproduction and Development
•
Departments of Microbiology and Public Health, University of Melbourne
Group Leader Associate Professor Deon J Venter venterd@murdoch.rch.unimelb.edu.au
•'a'
• Johnson & Johnson Pharmaceutical Research & Development
Ce
t k
I
I-
& Gene Therapy
THE CAGT GROUP USES KNOWLEDGE AND RESOURCES FROM THE HUMAN GENOME PROJECT TO DEVELOP NEW THERAPIES FOR COMMON CHILDHOOD DISEASES BASED ON THE DELIVERY OF GENES INTO STEM CELLS, OR THE TARGETED MODIFICATION OF GENE EXPRESSION BY DRUGS. Research overview Our group is focusing on the use of human genes to develop novel therapies for thalassaemia, Friedreich Ataxia, Wilson's disease and Methyl malonic aciduria. We are developing humanised mouse models to test gene therapy with stem cells. At the same time, we are developing genomic reporter assays to identify drugs that may be therapeutic by overcoming the effects of specific mutations or by stimulating the activity of complementing genes. This would compensate for mutations in any gene of interest. Thalassaemia 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 of our objectives is to pharmacologically stimulate foetal haemoglobin production to compensate for defective production of adult haemoglobin.
Friedreich ataxia Friedreich ataxia is a severe neurological disease, caused by a reduced production of frataxin, a protein that is apparently 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.
Developed novel counter-selection strategies for the precise engineering of human genes
Highlights of the year • Developed a comprehensive set of techniques and resources for functional genomics • Created unique cell and animal models for therapy of thalassaemia, Friedreich ataxia and MMA
Liver diseases Wilson's disease and Methyl malonic aciduria (MMA) are among a number of liver diseases with life threatening complications. Our research aims to develop liver cell therapy using liver cells from donors or the patient's own cells after gene therapy. Research outcomes •
Group Leader Associate Professor Panos loannou ioannoup@cryptic.rch.unimelb.edu.au
•
•
Produced mouse models with 100 per cent human globin and 100 per cent human frataxin Developed genomic reporter assays using the globin, frataxin and other genomic loci
Major collaborators •
Suthal Fucharoen, Thailand
• Julian Mercer, Deakin University Major sponsors •
Brockhoff Foundation
•
Muscular Dystrophy Association, USA
•
Bethlehem Griffiths Research Foundation
•
Freidreich Ataxia Support Groups
•
Rotary ANNUAL REPORT 2002 ^ 29
Ce
& Matrix Biology
WE DEFINE BIOCHEMICAL PATHWAYS SO THAT NEW DIAGNOSTIC AND CLINICAL TREATMENTS CAN BE DEVELOPED TO IMPROVE THE QUALITY OF LIFE OF CHILDREN AFFECTED BY DEBILITATING MUSCULOSKELETAL DISEASES. Research overview The extracellular matrix of musculoskeletal tissues is an intricate network that provides both structural scaffolding and regulatory signals for growth and development. We investigate the synthesis, regulation, structure, function and degradation of these complex matrices. We have defined mutations leading to brittle bone disease (osteogenesis imperfecta), cartilage disease (chondrodysplasias) and muscle disease (myopathies), and identified pathways involved in arthritis and cartilage repair.
a'Si
We define the mutations in collagen genes that cause several inherited muscle diseases and determine the functional consequences of these mutations on muscle extracellular matrix to improve our understanding of the disease process and allow accurate molecular diagnosis and counselling.
!•« I
1 j ■im
r
• Characterised genetically modified mice with mutations that affect cartilage structure • Identified unique and regionalised pattern of glycosaminoglycans on aggrecan • Identified a new cartilage protein that may be involved in arthritis • •
Characterised mutations and disease mechanisms in several inherited musculoskeletal diseases Mapped the gene involved in a novel disorder of limb development
Highlights of the year Cartilage damage in arthritis Arthritis affects all sectors of the community including children, who can be severely disabled with juvenile chronic arthritis. We study genetically modified mice to understand how cartilage grows in normal mice and how cartilage is destroyed in mice with joint disease. Cartilage gene expression profiling
.•m...
1 is
Molecular genetics of inherited muscle disease
Research outcomes
Combining two new approaches, protein identification by proteomic analysis, and mRNA profiling by microarray analysis, we examine gene and protein expression in developing cartilage. This provides insight into the regulation of cartilage development and disease, and creates a platform for the development of cartilage and bone biomaterials for improved tissue regeneration.
• John Bateman nominated as President-Elect of the International Society for Matrix Biology • Amanda Fosang invited as plenary speaker at Mizutani Foundation Commemorative Symposium • Shireen Lamande invited to specialist workshop, European Neuromuscular Centre, Netherlands Major collaborators •
Lund University, Sweden
• •
Shriners Flospital for Children, USA LifeCell Corporation, New Jersey, USA
Major sponsors • National Flealth and Medical Research Council • Australian Research Council • Mitzutani Foundation for Glycoscience Research • Arthritis Foundation of Australia • Pfizer Inc USA
Group Leaders Professor John Bateman bateman@cryptic.rch.unimeib.edu.au 30 »ANNUAL REPORT 2002
Dr Amanda Fosang
child Development & Rehabilitation r
I
1 3
I
WE ARE COMMITTED TO CHILDREN WITH DISABILITIES. OUR RESEARCH HAS TWO IMPORTANT AIMS: TO LEARN MORE ABOUT THE CAUSES OF CHILDHOOD DISABILITY; AND TO IMPROVE TREATMENT METHODS TO ENSURE THE BEST POSSIBLE OUTCOMES FOR CHILDREN AND THEIR FAMILIES. Research overview
Research outcomes
I0£
We collaborated with many MCRI research groups to investigate the antecedents of spastic cerebral palsy and to assess functional outcomes following Botulinum toxin in both the upper and lower limbs. We assessed spasticity management including the use of baclofen infusions, and saliva control with a focus on surgical outcomes. We investigated whether a more intensive home-based service, in conjunction with a centre-based service, improved outcomes for children with developmental disabilities and their families.
•
O a.
The Victorian Cerebral Palsy Register The register provides information about young people with cerebral palsy born in Victoria since 1970. Cohorts were generated for further studies into causes and treatment outcomes. One group of children and their parents participated in initial work to develop a 'quality-of-life measure' for children with cerebral palsy. Factor V Leiden mutation and cerebral palsy Whilst cerebral palsy is the most common physical disability in children, many causes and risk factors remain unknown. Research was undertaken to determine whether there was any link between cerebral palsy and the common mutations that predispose carriers to thromboembolism. Children with cerebral palsy and their mothers were tested for these mutations.
•
Parents value a home-based program in addition to a centre-based program
LU
o:
Research using the Child Health Questionnaire demonstrated that children with severe cerebral palsy have poor physical health, and for those with mild cerebral palsy, the emotional impact on parents is significant
X
u oc < UJ CO UJ
Oi
Highlights of the year •
Launch of the Australasian Academy of Cerebral Palsy and Developmental Medicine
•
Collaboration with the Children's Hospital at Westmead, Sydney
•
Forged strong links with Cerebral Palsy Registers in WA and SA
Major sponsors •
National Health and Medical Research Council
• The Jack Brockhoff Foundation
Group Leader Associate Professor Dinah Reddihough dinah.reddihough@rch.org.au
'—3* " L
ANNUAL REPORT 2002 • 3
I Ifd
chromosome Research GENE THERAPY CORRECTS DISEASE BY REPLACING DEFECTIVE GENES WITH NORMAL HEALTHY ONES. IT TREATS GENETIC DISEASES AT THE SOURCE AND AIMS TO PROVIDE A PERMANENT CURE. A MAJOR RESEARCH GOAL IS TO DEVELOP NEW TOOLS FOR DELIVERING NORMAL GENES INTO PATIENTS. and existing known proteins, is of fundamental importance to the understanding of how chromosome division is controlled and what happens when mutations affect these proteins. A new class of human centromeres
Research overview Twenty-three pairs of chromosomes carry all the genes in our body. Each time a cell divides, all the chromosomes make a new copy and divide the old and new blue prints equally between daughter cells. Our laboratory studies how proper chromosome division is governed, focusing on a key structure known as the centromere. Parallel related research capitalises on our expertise in chromosomes and centromeres to make human artificial chromosomes for gene therapy applications. New centromere proteins The centromere is a highly complex structure made up of DNA and a plethora of proteins that are only beginning to be understood. This project aims to identify new centromere-binding proteins and to define their roles. The study of these new proteins. 32 I ANNUAL REPORT 2002
Our laboratory was first to discover a new class of human centromeres, which we called neocentromeres. Unlike typical centromeres, which are confined to specific regions of a chromosome containing highly repetitive DNA, neocentromeres can form almost anywhere in the genome. This phenomenon has important implications for human disease (including cancer), biological evolution and centromere study. In 2002, we remained at the forefront of this field and developed strategies now used by other laboratories. Human artificial chromosomes Human artificial chromosomes are engineered chromosomes that function like their normal counterparts in a cell. Our laboratory has engineered a series of these artificial chromosomes using neocentromeres to regulate their proper divisions. These artificial chromosomes provide a useful tool to study centromere and chromosome biology, as well as a much-needed new gene-delivery system to carry and express therapeutic genes in patients for gene therapy.
Research outcomes •
Identified a series of new centromere binding proteins
• Obtained new exciting evidence that gene expression can occur within centromeric chromatin •
Generated a new series of neocentromere-based human artificial chromosomes
Highlights of the year • Awarded NHMRC and Biotechnology Innovation Fund (Ausindustry) grants totalling $1,620,500 • Awarded collaborative grants (Wellcome Trust UK and others) totalling $850,000 •
Invited to publish three major review articles
•
Filed a new patent on human artificial chromosomes
• Andy Choo invited to join the Editorial Board of two internationally reputed journals Genome Research and Chromosome Research, and appointed founding deputy editor of Cell and Chromosome Major sponsors •
National Health and Medical Research Council
• Ausindustry
Group Leader Professor Andy Choo choo@cryptic.rch.unimelb.edu.au
Immigrant and refugee health
C inical Epidemiology & Biostatistics Unit T
CEBU PRIMARILY ASSISTS OTHER RESEARCHERS ON RESEARCH METHODS AND BIOSTATISTICAL ANALYSIS THROUGH AN ACTIVE PROGRAM OF EDUCATION AND TRAINING. WE ALSO CONDUCT AND COLLABORATE ON A BROAD RANGE OF PUBLIC HEALTH AND CLINICAL RESEARCH, FOCUSED ON THE PREVENTION AND MANAGEMENT OF ILL HEALTH AMONG CHILDREN AND ADOLESCENTS. Research overview In 2002, our research activity expanded in the areas of immigrant and refugee health, international health, and the study of antenatal influences on child health. Work on the implementation and evaluation of new methods of analysis for studies with missing data culminated in important practical results in collaborative studies on adolescent cannabis use. Our extensive program of clinical trials of new vaccines continued, based now at the School of Population Health, University of Melbourne. We continued to research modifiable factors in pregnant women that influence growth and development of their babies, including the effects of maternal folate intake and status, maternal vitamin D status, and maternal calcium intake and status. Predicting severe illness in young infants CEBU is participating in a new multi-centre study which aims to validate methods for predicting very severe illness in babies by using simple clinical signs and symptoms. The study sites are in Ghana, South Africa, Bangladesh, India and Pakistan.
Group Leaders Professor John Carlin jbcarlin@unimelb.edu.au
The Victorian Immigrant Health Program commenced in April 2002. Working across tertiary and community health domains, the program seeks to address health service delivery, workforce development, health promotion and health education issues for new immigrants and refugees. Iron in pregnancy We are conducting a randomised, controlled trial of iron supplementation in pregnancy to determine whether children of supplemented mothers have higher developmental scores at one year of age. Recruitment has been completed.
I/) 0^
O o. UJ
X
u Vitamin D in pregnancy
<
We continued to investigate the relationship between maternal vitamin D level and offspring growth and blood pressure up to one year of age. Animal studies examined the effect of maternal vitamin D deficiency on a number of cardiovascular outcomes, to inform future human studies. Major collaborators • World Health Organization •
Saving Newborn Lives (USA)
•
Department of Human Services
•
University of Melbourne
•
Boston University
•
Menzies Centre for Population Health Research
•
Department of Physiology, Monash University
•
Department of History and Philosophy of Science, University of Melbourne
Major sponsors • National Health and Medical Research Council • VicHealth
Dr Ruth Morley
ANNUAL REPORT 2002 ^ 33
HI lU Q£
C inica
Trio s
THE AUSTRALIAN PAEDIATRIC PHARMACOLOGY RESEARCH UNIT (APPRU) IS DEDICATED TO PERFORMING HIGH QUALITY, TIMELY, CLINICAL DRUG TRIALS IN CHILDREN, COMPLYING WITH LOCAL AND INTERNATIONAL GOOD CLINICAL PRACTICE GUIDELINES. OUR STAFF HAVE COLLABORATED ON NUMEROUS CLINICAL DRUG TRIALS, INCLUDING PHASE I TO PHASE IV STUDIES, SINGLE-CENTRE AND INTERNATIONAL MULTI-CENTRE TRIALS AND A NUMBER OF PHARMACOKINETIC, BIOEQUIVALENCE AND PHARMACODYNAMIC STUDIES. WE FACILITATE THE QUALITY USE OF MEDICINES IN CHILDREN. APPRU clinical trial service
Highlights of the year
Provides personnel who are highly experienced in all aspects of:
• Attracted early phase drug trials from USA and Europe
• Phase I to Phase IV trials (including pharmacokinetic and bioequivalence studies)
• A total of 22 clinical drug trials were completed, commenced or in pipeline
• All issues relating to GCP (good clinical practice)
• Expertise and International recognition of Population Pharmacokinetics; Academic Centre of Excellence for Pharsight software.
• CRF management • GCP staff training • Subject recruitment Other APPRU services • Clinical pharmacology, research and development • Clinical trial design • GCP compliance • In patient facilities
Major collaborators We collaborated with clinicians and researchers across many fields including Allergy, Complementary and Alternative Medicine, Endocrinology, Gastroenterology, Hypertension, Immigrant Health, Infectious Diseases, Metabolic Diseases, Pain Management, Psychiatry and Rheumatology.
• Pharmacokinetic/pharmacodynamic modelling • Protocol development • Regulatory affairs strategy
Group Leader Associate Professor Noel Cranswick noel.cransw/ickOrch.org.au 34 ^ ANNUAL REPORT 2002
Craniofacial Sciences i P
r
WE RESEARCH THE CAUSES, TREATMENTS AND CONSEQUENCES OF INHERITED AND ACQUIRED DISORDERS OF THE FACE. THE CRANIOFACIAL SCIENCES CONSORTIUM (CFSC) COMPRISES SCIENTISTS, CLINICIANS AND PUBLIC HEALTH RESEARCHERS SHARING THE GOAL OF IMPROVING THE LIVES OF CHILDREN AND FAMILIES AFFECTED BY THESE CONDITIONS.
L to
a
Research overview To improve the understanding and treatment of conditions affecting the face, we conducted research into: • embryonic and foetal development of craniofacial structures
•
I
•
Mark Gussy and Negar Jamshidi awarded NHMRC trainee scholarships
0£
•
Sheena Reilly, Peter Farlie and Nicky Kilpatrick awarded 4 NHMRC project grants
•
Nicky Kilpatrick received the NHMRC Career Development Award
•
Engaged 8 Doctoral and 6 Masters students, and a number of Honours students
• oral health in children Highlight projects
1
•
Early identification of feeding problems in children born with cleft palate
•
Identification of the gene responsible for Pierre Robin Sequence, a common facial malformation
•
Departments of Psychology and Physiology, Monash University
•
Improving the oral health of preschool aged children in rural Victoria
•
School of Human Communication Sciences, La Trobe University
•
Investigating the psychological impact of facial deformity
•
School of Dental Science, University of Melbourne
•
Biomaterials Science Research Unit, University of Sydney
Research outcomes •
Developed the Cleft Registry — a formalised system of data collection
•
Characterised one of the major cellular activities in early embryonic facial development
•
Identified the function of a gene involved in facial development
Q. LU
a
Highlights of the year
• clinical outcomes - surgical, speech and psychology • genetic causes of craniofacial malformation
O
Identified infants at risk of poor feeding and subsequent poor growth and development
u
< Ul (/) Ul
Major collaborators
Group Leader Associate Professor Nicky Kilpatrick nicky@bassdata.com.au ANNUAL REPORT 2002 • 3S
g 7!
4 P
Community Child Health OBESITY, INJURY LANGUAGE AND LITERACY SOCIAL AND EMOTIONAL WELLBEING, BEHAVIOURAL AND ORAL HEALTH PROBLEMS POSE A SIGNIFICANT PUBLIC HEALTH CONCERN. OUR RESEARCH FOCUSES ON DESCRIPTION, SYSTEMATIC REVIEWS OF THE EVIDENCE-BASE, PREVENTION, EARLY DETECTION AND EARLY INTERVENTION IN THE COMMUNITY Research overview
Evidence-based public health
Research into childhood overweight and obesity examined risk and protective factors, social determinants and inequalities, and socio-cultural influences on eating and physical activity. We also examined adiposity rebound, trial of overweight and obesity prevention in general practice, and community interventions. Our research continued into early language promotion, and detection and management of early language delay. Major studies on the epidemiology and outcomes of hearing impairment were completed. Research into injury (poisoning and community prevention interventions), quality of life for children with cerebral palsy, social health and wellbeing, and mental health promotion commenced.
VicHealth, the Commonwealth and PHERP funded the Cochrane Collaboration Health Promotion and Public Health Field to increase the quality and quantity of systematic literature reviews in this area. 2002-2003 projects include appraisal and synthesis of public health study designs and global priority topics.
Mild sensorineural hearing impairment affects between 3 per cent and 15 per cent of school-aged children. Our cross-sectional survey will test the hearing of 6000 Grade 1 and 5 children, and will then assess the genetics and impact of mild hearing loss on children's language, learning and quality of life.
Obesity research: Two major projects
Research outcomes
We examined social and cultural influences on healthy eating and physical activity by consulting Melbourne's Greek, Turkish, Chinese and Indian communities to identify public health program recommendations. We then conducted a randomised, controlled trial of a GP delivered intervention to reduce overweight in Victorian primary school children in the Live, Eat And Play (LEAP) project.
•
•
Hearing in schools
•
Identified population indicators for child health and wellbeing Found children are getting fatter faster; inequalities in overweight and obesity by socio-economic status; cultural eating and activity beliefs are contrary to public health messages
Group Leaders Professor Frank Oberklaid frank.oberklaid@rch.org.au
Found brief behavioural interventions improve infant sleep and maternal depression
Highlights of the year •
Melissa Wake awarded NIH grant to examine mild hearing loss in children aged 6-12 years
•
Harriet Hiscock/Jordana Bayer awarded NHMRC grant for infant sleep study community trial
•
Elizabeth Waters awarded VicHealth Public Health Research Fellowship for five years
Major sponsors • Victorian Health Promotion Foundation •
National Institutes of Health, USA
•
National Health and Medical Research Council
•
Department of Human Services
Dr Elizabeth Waters Dr Melissa Wake
36 ^ ANNUAL REPORT 2002 s '
Derma
Therapeutics
WE STUDY HOW THE SKIN'S EPIDERMIS RESPONDS TO STRESSES AND HOW IT RENEWS ITSELF TO MAINTAIN HEALTHY SKIN. WITH OUR COMMERCIAL PARTNER, ANTISENSE THERAPEUTICS LTD, WE ARE ALSO DEVELOPING A TOTALLY NEW SKIN THERAPY —AN ANTISENSE CREAM FOR THE COMMON SKIN DISEASE PSORIASIS. t/>
Research overview A complex network of growth factors or cytokines controls skin growth. In the skin's outermost layer, the epidermis, a particularly potent cytokine is insulin-like growth factor-1 (IGF-I). In 2002, we continued our focus on the dissection and manipulation of 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 made significant advances in the development of a powerful antisense inhibitor of IGF-I action (that targets the IGF-I receptor) for use in psoriasis and other skin disorders. The inhibitor was optimised for use in humans and given the new name ATL1101. Epidermal growth control Maintenance and repair of the epidermal barrier requires an exquisitely choreographed program of molecular transformations. Our research highlighted the crucial role that the IGF-I system, in combination with local growth factors, plays in normal skin growth and psoriasis. We also Identified IGFBP-3 as a potential modulator of the Initial steps of epidermal maturation.
I
antisense drug for use in a topical cream for clinical testing, In partnership with local biopharmaceuticals company Antisense Therapeutics Ltd and the world's leading antisense company, Isis Pharmaceuticals Inc.
o
a. lU
a
T. U
Research outcomes •
Identified IGFBP-3 as a potential modulator of keratinocyte growth and maturation
•
Identified local skin growth factors as modulators of the epidermal IGF-I system
•
Optimised the structure of psoriasis antisense drug ATL1101 for use in humans
•
Formulated ATL1101 for topical use in human psoriasis
0£
< lU lO lU
0£
•
Published in Antisense & Nucleic Acid Drug Development on mechanism of action of antisense psoriasis drug
Major collaborators
Highlights of the year
•
Peter MacCallum Cancer Institute
•
Stephanie Edmondson invited to speak at the Peter MacCallum Cancer Institute
•
CSIRO Division of Health Sciences & Nutrition
•
University of Manitoba, Canada
•
Christopher Wraight delivered symposium seminar, Paris World Congress of Dermatology
•
Cancer Research UK, London
•
Isis Pharmaceuticals Inc, California
•
Published in Journal of Investigative Dermatology on skin penetration of antisense psoriasis drug
Major sponsors •
National Health and Medical Research Council
• Antisense Therapeutics Ltd
Antisense therapy for psoriasis Psoriasis is a disfiguring skin disease affecting 3 per cent of the population. We are developing an
Group Leader Dr Christopher Wraight wraight@cryptic.rch.unimelb.edu.au ANNUAL REPORT 2002
mr I ti'
E m bryology WE AIM TO UNDERSTAND THE DEVELOPMENT OF THE NEURAL CREST, A TRANSIENT EMBRYONIC POPULATION OF CELLS RESPONSIBLE FOR THE CONSTRUCTION OF THE PERIPHERAL NERVOUS SYSTEM, THE FACE AND THE SKULL. THE NEURAL CREST IS INVOLVED IN A HIGH PROPORTION OF BIRTH DEFECTS.
• Published a major review of development and abnormalities of intestinal nerves • Don Newgreen invited to give Keynote Lecture, Hong Kong University Frontiers of Biomedical Research meeting
Research overview
Research outcomes
Our aim is to understand how the neural crest cell population contributes to birth defects through research into i) molecular control of neural crest cells during nervous system and face development; and ii) control mechanisms regulating migration of neural crest cells in the intestine.
• Identified molecular networks that create the neural crest • Detailed changes that occur in neural crest cells during facial development • Identified functions of Ypell, a gene involved in facial development • Described similarities between normal embryonic cell migration and migration of cancer cells
• St Vincent's Institute of Medical Research • Department of Physiology, Monash University • Department of Anatomy and Cell Biology, University of Melbourne • Department of Mathematics and Statistics, University of Melbourne • Deakin University
Highlights of the year
Major sponsor
• Negar Jamshidi awarded an NHMRC scholarship • Don Newgreen awarded NHMRC and US Dept of Defence IDEA grants
• National Health and Medical Research Council
Highlight projects • Genes, molecules and cell interactions controlling migration of neural crest cells • Cell and molecular interactions in formation and malformation of the nervous system of the gut
Major collaborators
Group Leader Dr Donald Newgreen newgreen@cryptic.rch.unimelb.edu,au 38 ^ ANNUAL REPORT 2002
Enteric Viruses
i/> 02
o
GASTROENTERIC INFECTIONS ARE ONE OF THE MOST COMMON CAUSES OF MORBIDITY AND MORTALITY IN CHILDREN WORLDWIDE, WITH OVER TWO MILLION DEATHS ANNUALLY OUR RESEARCH ATTEMPTS TO UNDERSTAND HOW AND WHY ENTERIC VIRUSES (ROTAVIRUS AND CALICIVIRUS) CAUSE SUCH PROBLEMS. Research overview
I
I
In Australia, approximately 20,000 children under five years of age are hospitalised each year for acute gastroenteritis. In 2002, our research focused on the two major viral agents of gastroenteritis — rotavirus and caiicivirus — and on improving understanding of the epidemiology, immunity and biology of these viruses. We continued to work on the development of an oral rotavirus vaccine. Rotavirus vaccine development Development of the Melbourne oral rotavirus vaccine candidate (RV3) progressed with advances in virus titre levels. Further development has been undertaken in collaboration with PT BioFarma, a large Indonesian vaccine company. Major funding initiatives to support vaccine development were recently established.
aims to define the baseline incidence, clinical presentation and current management trends of acute intussusception in young children in Australia. A study was also formulated to determine the baseline incidence data in Vietnam. Research outcomes •
Identified rotavirus serotype G9 as the major cause of acute gastroenteritis in Australia in 2001-2
•
Identified immune responses to rotavirus non-structural proteins, which may be important in understanding rotavirus disease pathogenesis and immunity
•
Developed clinical case definition for intussusception
I
u < 111 111 Q£
Highlights of the year •
Carl Kirkwood awarded the Philip Bushell postdoctoral research fellowship of the Gastroenterological Society of Australia
• Julie Bines authored the WHO document on intussusception • Asian Rotavirus Surveillance Network meeting, Bangkok, Thailand Major collaborators •
PT BioFarma, Indonesia
•
National Institutes of Health, USA
•
Diagnostic laboratories for enteric viruses
•
National Institute of Pediatrics, Vietnam
Major sponsors • World Health Organization
Acute intussusception in young children An increased incidence of intussusception in recipients of a rhesus-human reassortant rotavirus vaccine led to its withdrawal. However, more data is necessary to guide clinical trials of rotavirus vaccines. This research
O. lU
Group Leaders Professor Ruth Bishop bishopr@cryptic.rch.unimelb.edu.au
•
Department of Health and Aged Care, Canberra
•
Department of Human Services
•
GlaxoSmithKline
Professor Graeme Barnes
ANNUAL REPORT 2002
i 3’
Ethics WE UNDERTAKE WORLD-CLASS RESEARCH INTO ETHICAL ISSUES SUCH AS CLONING, STEM CELLS, REPRODUCTIVE ETHICS, PRE-IMPLANTATION GENETIC DIAGNOSIS AND BEHAVIOURAL GENETICS. IN 2002, WE WERE AGAIN AT THE FOREFRONT OF PUBLIC AND PROFESSIONAL ETHICAL DEBATES ON HEALTH, GENETICS AND MEDICAL RESEARCH. WE ALSO ESTABLISHED A FORMAL RESEARCH PROGRAM IN THE ETHICS OF STEM CELL RESEARCH. Ethics and stem cell program This research program, which was formally established in 2002, examines ethical issues related to research and development in embryonic stem cells, cloning and adult stem cells. Prenatal diagnosis and discrimination We examined the question of whether prenatal testing for conditions such as deafness and Down syndrome results in discrimination against the disabled. This project had a strong qualitative empirical research focus.
• Ainsley Newson joined Imperial College of Science, Technology & Medicine, UK as a postdoctoral fellow •
Merle Spriggs appointed Associate Editor of Current Controversy in the Journal of Medical Ethics
•
Developed free access Current Controversy site wvvw.jmedethics.com
Major collaborators •
Oxford Centre for Applied Ethics
•
Centre for Medical Ethics, Oxford
The 'Devil's Offer'
•
Centre for Law and Genetics, Tasmania
This project 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. This project had a strong philosophical base.
• Australian Institute of Health Law and Ethics
Research outcomes
• Centre for Applied Philosophy and Public Ethics, University of Melbourne •
Centre for Human Bioethics, Monash University
•
Universities of Kyoto and Tokyo, Japan
•
Centre for the Study of Health and Society, University of Melbourne
•
University of Manchester and EUROSTEM
•
Published more than 30 journal articles
• British Medical Journal
•
Presented at national and international conferences
• Journal of Medical Ethics
Major sponsors • Anne Kantor • The Lion Fund
Highlights of the year • Julian Savulescu became the first Uehiro Chair in Applied Ethics, Oxford University
40 ^ ANNUAL REPORT 2002
Group Leaders Professor Julian Savulescu Professor Bob Williamson
Gene Discovery OUR RESEARCH INTEREST IS IN FINDING THE GENES THAT ARE RESPONSIBLE FOR NERVOUS SYSTEM PROBLEMS, FROM MOVEMENT CONTROL TO BEHAVIOUR. EXAMINING THE NORMAL AND DISEASE STATES OF GENES MAY ASSIST IN THE DEVELOPMENT OF NEW APPROACHES TO TREATMENT AND PREVENTION. V)
Research overview Two teams have been working on the genetic basis of common behavioural disorders. Using a family-based approach, we discovered two genes that may cause attention deficit hyperactivity disorder (ADHD). We have also established a population-based approach to look for genetic factors that influence a number of pre-clinical behavioural traits, such as tobacco, alcohol
and cannabis abuse. Our neurogenetics research aims to identify genes that cause familial nervous system disorders known as ataxias, which cause loss of motor control. Genes for ADHD-like condition Previous research identified a chromosome inversion that was found to segregate in a family with ADHD. We identified and characterised the two novel genes altered by this inversion and initiated research into their function. Local and international collaborations were established to investigate these genes in the aetiology of ADHD, within the general population.
Research outcomes
Of
•
O a.
Group Leaders Dr Richard Anney anneyr@murdoch.rch.unimelb.edu.au
•
Of
Z
u Of
<
Excluded ITPR1 as the causative gene responsible for SCA15
111 t/)
Ui 0£
Highlights of the year •
Secured a full patent on genes associated with ADHD-like condition
•
Melanie Knight awarded NHMRC, Melbourne University and Amersham travel awards
Major collaborators •
Garvan Institute, Sydney
•
Institute of Human Genetics, University of Minnesota, USA
•
Medical Genetics Branch, National Institutes of Health, USA
Major sponsors • The Gene CRC
Dr Michael Lynch
ANNUAL REPORT 2002
L
UJ
• Completed collection of more than 1000 DNA samples for our behavioural genetics project
Behavioural genetics Genetic samples have been collected from participants in the Victorian Adolescent Health Cohort, a longitudinal study involving 2000 young people from 1992-2002. We continued research to identify genetic and environmental influences on behaviour, particularly addiction. Genes involved in the 'reward' system of the brain are being investigated in tobacco, alcohol and cannabis dependent subgroups, along with personality and depressive symptoms. We hope this information will enable better treatment strategies for those at risk of addiction and depression.
Identified and characterised two novel genes in an 'ADHD-like' family
i
Gene Identification & Expression WE ARE IDENTIFYING CAUSES AND EXPANDING OUR UNDERSTANDING OF HEARING IMPAIRMENT AND CERTAIN NEUROMUSCULAR DISORDERS. THIS WILL RESULT IN EARLIER DETECTION, BETTER MANAGEMENT USING EXISTING TREATMENT OPTIONS, IMPROVED COUNSELLING FOR AFFECTED FAMILIES, AND THE DEVELOPMENT OF NEW OR IMPROVED THERAPIES. Research overview
Research outcomes
Our main focus is on genetic aspects of hearing impairment in children and adults. We investigate known 'deafness' genes and search for novel 'deafness' genes in individuals and families affected by hearing loss. To study how the inner ear works and how stem cells can be used to replace lost ear cells, we established new mouse models for hearing loss. We also investigated molecular and genetic aspects of neuromuscular disorders caused by mitochondrial dysfunction.
• Filed a provisional patent relating to ADHD
Language and speech perception outcomes in children This study addressed the question of whether a hearing loss caused by mutations in the connexin 26 gene had a significant effect on language and speech perception outcomes in children using cochlear implants or hearing aids. No significant differences were found between the 15 children where connexin 26 was known to be the cause of deafness and the other 37 children in the study.
• Filed a PCT patent application and a provisional patent relating to novel ways of testing for genetic causes of deafness • Published six refereed papers Highlights of the year • Awarded a NIH grant to study mild hearing loss in school children
Analyses of genes expressed in the mouse inner ear By database analyses, we were able to rapidly identify genes that are likely to have a specific role in the auditory or vestibular function of the inner ear. Combining this information with microarray results greatly facilitates our search for novel genes involved in hearing.
• Awarded funds from the Garnett Passe and Rodney Williams Memorial Foundation, to investigate the use of stem cell therapies for deafness Major collaborators • Peter Blarney, University of Melbourne • Rob Shepherd, University of Melbourne • Richard Smith, University of Iowa Major sponsors • John and Janet Calvert-Jones • Garnett Passe and Rodney Williams Memorial Foundation • National Health and Medical Research Council
Group Leader Associate Professor Henrik Dahl dahl@cryptic.rch.unimelb.edu.au 42 • ANNUAL REPORT 2002
Genetics Education
I
WE PROVIDE EDUCATIONAL RESOURCES AND GENETICS PROGRAMS TAILORED TO MEET THE NEEDS OF MANY DIFFERENT INTEREST GROUPS IN THE AUSTRALIAN COMMUNITY, INCLUDING SCHOOLS, HEALTH PROFESSIONALS, ETHICS COMMITTEES, LAWYERS AND THE GENERAL PUBLIC.
• Alexandra Gason won the student prize at the Human Genetics Society of Australasia conference
Research overview
•
Community genetic screening
We are a multi-disciplinary team, with experts in genetic counselling, laboratory science, secondary, primary and tertiary education, and conduct research on community genetics programs. This research enables us to tailor a variety of educational resources for 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.
A genetic screening program for Tay-Sachs disease was established for Year 11 students in Jewish schools in Melbourne. Students were surveyed about their knowledge and attitudes towards genetic testing before, during and after the program. The majority of students take up testing, and this is correlated with high knowledge scores and positive attitudes to the program. Educational resources
Prenatal diagnosis education for GPs Knowledge and practice of prenatal diagnosis for GPs was assessed using questionnaires before, after, and six months following case-based workshops. Mean knowledge scores increased significantly for 75 per cent of GPs after the workshop and, although these did decrease over time, they were still significantly higher than prior to the education intervention, indicating long term retention of knowledge.
I
Group Leaders Dr Sylvia Metcalfe sylviaam@unimelb.edu.au
Highlights of the year •
Staged the first National GenETHICS competition
to
Sylvia Metcalfe invited to DNA Interactive Website Advisory Board, Cold Spring Harbour, NY
a
O
o. UJ
Major collaborators
06
•
Genetic Support Network Victoria
•
Royal Australian College of General Practitioners
•
Department of Human Services
•
CSIRO Health Sciences and Nutrition Division
•
Centre for Genetics Education, NSW
Z
u 06
< UJ 111
oc
GeneCRC
GenelSSUES — an interactive CD-ROM for secondary students and teachers on current ethical issues in genetics The Genetics File — a practical resource for GPs on common genetic conditions Medical Genetix — an interactive CD-ROM on medical genetics for tertiary students j
Fiona Cunningham MCRI is a partner of the Gene CRC, which is committed to developing an ethics-based education program designed to facilitate informed community discussion on issues surrounding genetic technologies in medicine, wvvw.genecrc.org is a dynamic, up to date product keeping the community abreast with the latest developments in the world of genetics and biotechnology.
Dr MaryAnne Aitken
m
ANNUAL REPORT 2002
i
Gut & Liver Disorders GOOD HEALTH IS DEPENDENT ON ADEQUATE NUTRITION AND A FUNCTIONAL GASTROINTESTINAL TRACT. OUR RESEARCH COVERS A RANGE OF PROBLEMS INCLUDING MALNUTRITION, INFECTIOUS DIARRHOEA, INFLAMMATORY BOWEL DISEASE, LIVER DISEASE, AND INTESTINAL FAILURE. WE AIM TO DEVELOP BETTER TREATMENTS TO IMPROVE CHILD HEALTH. WE ARE RECOGNISED AS A MAJOR CENTRE OF EXCELLENCE FOR TRAINING PAEDIATRIC GASTROENTEROLOGISTS FROM AUSTRALIA AND OVERSEAS. Research overview
Short bowel syndrome This study into the mechanisms, modulation and management of short bowel syndrome is defining the role of glucagon-like peptide-2 in the adaptive response following massive small bowel resection in a porcine model. The impact of growth factor supplementation is also being studied in gut adaptation, both in models and in the human infant. Research outcomes
Our luminal group focuses on bowel problems in children. Specific areas include faecal incontinence, imperforate anus, Flirschsprung's disease, short bowel, intravenous feeding, Crohn's disease, cystic fibrosis, gastro-oesophageal reflux and liver diseases. Our nutritional group aims to define the mechanisms underlying the process of intestinal adaptation following massive small bowel resection and to investigate nutritional interventions.
•
Our five year study of chest physiotherapy in cystic fibrosis identified the importance of gastro-oesophageal reflux in chest disease
•
Found that Crohn's disease continues to increase in Victorian children
•
Found that Nasogastric rehydration is effective in hospital-based treatment of children with acute gastroenteritis in an Australian setting
Improving faecal incontinence after surgery
Highlights of the year
Uncontrollable faecal soiling frequently follows childhood surgery for Flirschsprung's disease and anorectal malformations. It is poorly understood and difficult to treat effectively. This study is funded as part of the Commonwealth National Continence Management Strategy and evaluates long term continence as well as identifying causes and best therapies.
•
• Awarded major Commonwealth funding for long term incontinence studies • Awarded funding for innovative therapies in Crohn's disease • Awarded NFIMRC funding for intestinal adaptation studies
Group Leaders Associate Professor Tony Catto-Smith tony.cattosnnith@rch.org.au 44 ^ ANNUAL REPORT 2002
Invited to international lectureships in Asia, Europe and North America
Associate Professor Julie Bines
a
5
Gut Moti ity Germ Ce Research I I I ^ I -i
WE RESEARCH THE NATURAL CONTROLS RESPONSIBLE FOR THE GROWTH OF MALE GERM CELLS (THE CELLS THAT GIVE RISE TO SPERM), SO THAT THE RIGHT NUMBER EXIST FOR LIFE-LONG FERTILITY
Research overview We are researching important events that take place in the testis of newborn males. At this time, germ cells develop so that they can mature properly at puberty. Germ cells in mouse models were investigated at two crucial time points; in the embryo (at mid to late gestation) where cells undergo cell cycle 'arrest', and just after birth, when the stem cells are laid down to ensure lifelong fertility. This process involves expansion of spermatogonial cells and their 'selection', which results in the death of ail unwanted cells. Research outcomes •
Successfully cultured newborn germ cells called gonocytes
•
Established an assay for spermatogonial cell growth and tested molecules that affect it
•
Began growing large numbers of spermatogonia to transfect with a detectable reporter gene, so these cells can be transplanted and populate the germ line — a new technology for creating transgenic mice, this work is a precursor for future gene therapy studies
Group Leader Dr Sue Hasthorpe hasthors@cryptic.rch.unimelb.edu.au3
FOOD IS PUSHED THROUGH OUR INTESTINES BY CONTRACTION AND RELAXATION OF THE GUT MUSCLE, COORDINATED BY NERVES. DEFECTS IN NERVE CONTROL MAY INCREASE OR DECREASE GUT MOTILITY, CAUSING DIARRHOEA OR CONSTIPATION IN CHILDREN.
to Q£
o
Research overview
O. UJ
Chronic constipation can be due to siow motiiity through the iarge bowei or obstruction of the outiet. We used dinicai and iaboratory methods to determine if defects in the nervous system of the gut siow motiiity through the coion. We measured pressure in the iarge bowei in six chiidren with siow coionic transit for 24 hours. Normaliy, pressures and contractions increase upon waking and after a meai. In all patients, the strength and number of contractions was far below normal and there was no increase after waking or a meal, confirming a physical defect in colonic motility in these children. Biopsies of colon were tested for their ability to contract and for the normal functioning of nervous stimulation. We found the muscle could contract and major excitatory transmission was present, but response to tachykinin NK2 receptors was absent.
X
u tn < lU (/> 111
ot
Highlight of the year •
Hosted symposium on chronic constipation in children
Major sponsors •
National Health and Medical Research Council
• ABC Auxiliary •
Gotta Get a Life Foundation
•
NidKids parents support group
Group Leader Dr Bridget Southwelll southwellb@nnurdoch.rch.unimelb.edu.au ANNUAL REPORT 2002
i«
Heart Research OUR COMBINED CLINICAL AND LABORATORY RESEARCH PROGRAM IS DEDICATED TO THE STUDY OF HEART DISEASES IN CHILDREN. WE AIM TO IMPROVE THE DIAGNOSIS AND TREATMENT OF CHILDREN WITH HEART DISEASES, AND ULTIMATELY TO REDUCE THE IMPACT OF THESE CONDITIONS ON CHILDREN AND THEIR FAMILIES. Research overview Cardiovascular disease is an important cause of mortality and morbidity in children, in Australia and around the world. Our position within MCRI and the Royal Children's Hospital allows us to juxtapose state-of-the-art cardiovascular research with a world-class clinical service. Our research is dedicated to the study of congenital heart disease, heart disease in newborns and pulmonary hypertension. Optimising function after heart surgery The early hours after heart surgery is a period of high risk for infants with congenital heart disease — death related to cardiovascular failure being an important contributor to mortality. We investigate methods to improve the cardiovascular performance of children early after cardiopulmonary bypass.
•
Christian Brizard invited to speak at the THIC meeting, Bali
•
Lara Shekerdemian invited to speak at the International Workshop on Respiratory Care
Highlight of the year •
Research outcomes •
Published in top peer-review journals in the field
•
Dan Penny invited to speak at annual meetings of the ANZ Intensive Care Society, the Asean College of Cardiology, and the British Intensive Care Society
Launch of the Australian Children's Heart Research Centre by the Honourable John Thwaites, Minister for Health
Group Leaders Professor Dan Penny, Director of Cardiology dan.penny@rch.org.au
46 ^ ANNUAL REPORT 2002
d ■■■
Major collaborators • Joseph Smolich, Monash University •
Baker Medical Research Institute
•
University of Aarhus, Denmark
Major sponsors •
National Heart Foundation of Australia
•
Perpetual Trustees
Dr Christian Brizard, Director of Cardiac Surgery
Hormone Research m
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.
10 Q£
'
r
f i
1 I '
Research overview
New roles for the androgen receptor
The diabetes and neuroscience research groups focused on diabetes in adolescence, and the effects of blood glucose control on brain development and function. The 'healthy bones' unit utilised our bone densitometer to gather information on normal bones and the effects of intervention for diseases affecting bone development. Sexual development research included a large cooperative program following up people born with uncertain gender, a study on the psychological aspects of Turner syndrome, and a study investigating the role of the androgen receptor in neurological disease.
Investigating novel roles for the androgen receptor, we developed a mouse model of motor neuron disease with an abnormal androgen receptor gene. It may lead to new treatments for motor neurone disease and male-pattern baldness.
o
a. ai 0£
X
u a
< UJ Ui
Research outcomes •
Demonstrated that iodine deficiency is a re-emerging problem in Victorian children
•
Demonstrated that damaging effect of glucose starvation on nerve cells can be reversed by IGFs
Diabetes and quality of life
Highlights of the year
This project focused on diabetes issues in adolescence, when control frequently deteriorates, leading to early complications. It established the nature of the negative relationship between diabetes control and adverse social factors and quality of life.
• Invited lectures in USA, Sri Lanka, India, Vietnam, and Germany
Bone disorders We continued trials of bisphosphonate and
•
•
Published twenty-five scientific papers and book chapters
Major sponsors
vitamin D in various childhood bone disorders causing osteoporosis. Bisphosphonate treatment was shown to be safe and effective. Growth factors, diabetes and the brain Insulin-like growth factors (IGFs) play a key role in brain development and repair. Human nerve cells are being studied to investigate the role of IGFs and their binding proteins in protecting developing brain from damaging effects of low blood glucose.
National Health and Medical Research Council
• Juvenile Diabetes Research Foundation •
Motor Neurone Disease Research Institute
•
Pharmacia Australia, Novo Nordisk Australia, Elly Lilly Australia, Serono Australia
Group Leaders Professor George Werther george.werther@rch.org.au
Dr Fergus Cameron Associate Professor Garry Warne Dr Vincenzo Russo ANNUAL REPORT 2002
i
Microbiology & Infectious Diseases OUR RESEARCH ENCOMPASSES BASIC AND APPLIED MEDICAL MICROBIOLOGY, WITH AN EMPHASIS ON THE MECHANISMS BY WHICH BACTERIA CAUSE DISEASE. THIS RESEARCH IS DIRECTED TOWARDS ENHANCING CURRENT STRATEGIES TO DIAGNOSE, TREAT AND PREVENT BACTERIAL INFECTIONS IN CHILDREN. Research overview Our Yersinia group examined the way in which Y. enterocolitica strains of biotype 1A cause disease. One focus of the E. coli group was enteropathogenic E. coli with a view to discovering their pathogenic mechanisms and clinical correlations. The Mycobacterium ulcerans group investigated the occurrence of these bacteria in the environment and the Streptococcus group investigated the pathogenic mechanisms of group B streptococci. Pathogenesis of diarrhoea caused by Escherichia coli An important advance in our research included the discovery of a novel toxin, which some strains of E. coli require to cause diarrhoea. We also learned more about the ways in which pathogenic strains of E. coli evolve from harmless strains.
Group Leader Professor Roy Robins-Browne r.browne@unimelb.edu.au
Pathogenesis of infections with Yersinia enterocolitica Another significant achievement was the discovery that some strains of Y. enterocolitica, which were previously thought to be avirulent, carry genes for an insecticidal toxin. We also showed that these bacteria require intact surface lipopolysaccaride to survive within macrophages. Highlights of the year •
Marija Tauschek and Debbie Baldi were awarded their PhDs
•
Debbie Baldi was awarded a NHMRC Peter Doherty Fellowship
Major collaborators •
Paul Johnson, Austin & Repatriation Medical Centre
•
Elizabeth Hartland, Monash University
Mitochondria
Research ^rd
MITOCHONDRIA ARE THE POWERPLANTS IN OUR CELLS THAT BURN FOOD TO GENERATE ENERGY. MITOCHONDRIAL DISEASES USUALLY AFFECT BRAIN AND MUSCLE BUT CAN AFFECT ANY OR ALL TISSUES AT ANY AGE. OUR RESEARCH AIMS TO IMPROVE DIAGNOSIS, TREATMENT AND PREVENTION. Research overview
1
Primary disorders of mitochondrial energy generation can be caused by mutations in potentially hundreds of nuclear genes, or in genes encoded by the mitochondrial DNA that we inherit only from our mothers. Our research is focused in three major areas: (i) improving diagnosis and reproductive options; (ii) applying molecular and cell biology methods to identify causative genes; (iii) understanding the pathogenic mechanisms, both in primary mitochondrial disorders and more common conditions (eg. diabetes) where mitochondrial dysfunction contributes to causing disease. Complex I deficiency Respiratory chain complex I deficiency is the most common energy generation disorder. Complex I has 45 different protein sub-units; however most patients with Complex 1 deficiency do not have mutations in these subunit genes. We are using cell biology (complementation analysis and microceil-mediated chromosome transfer), linkage analysis and bioinformatics to map and identify novel Complex I genes.
H* 0^
defect in Complex I. We attempted to 'rescue' these changes with the anti-oxidant idebenone, which appeared to give slight improvement. This suggests that more powerful agents may provide a new therapeutic approach.
O a. tu 0£
T
u <
Research outcomes •
Demonstrated that many unknown genes cause Complex I deficiency
•
Characterised a range of different Complex I assembly defects
•
Identified the chromosomal location of our third new Complex I gene
•
Identified a potential new approach for preventing diabetic complications
Highlights of the year
LIJ t/1 UJ
Major collaborators
•
David Thorburn invited to speak at the Mito-Dallas 2002 Symposium and the Xth International Congress on Neuromuscular Diseases, Vancouver
• •
Department of Biochemistry, La Trobe University Department of Medicine, Melbourne University
•
David Thorburn invited to participate in Cochrane Review of therapy for mitochondrial disorders
• •
Sydney Children's Hospital University of Newcastle upon Tyne, UK
•
Published a new approach to diagnostic criteria for mitochondrial diseases in Neurology
Major sponsors • •
Mitochondria and diabetic complications Mitochondrial reactive oxygen species may play a key role in initiating diabetic complications. We showed that glomeruli from diabetic kidneys have a specific
National Health and Medical Research Council Muscular Dystrophy Association, USA
• Juvenile Diabetes Research Foundation, USA •
United Mitochondrial Disease Foundation, USA
Group Leader Dr David Thorburn thorburd@cryptic.rch.uninnelb.edu.au
J:
ANNUAL REPORT 2002
i
Molecular Development CHILDREN OF UNCERTAIN SEX ARE BORN ONE IN EVERY 4000 BIRTHS AND CAUSE MAJOR CONCERN. OUR RESEARCH AIMS TO UNDERSTAND HOW CHANGES IN THE DEVELOPMENT OF TESTES OR OVARIES MAY RESULT IN CHILDREN WITH AMBIGUOUS GENITALIA. THIS KNOWLEDGE WILL IMPROVE THE CARE OF THESE CHILDREN AND WILL PROVIDE UNIQUE INSIGHTS INTO THE DEVELOPMENT AND DISEASE OF OTHER ORGANS. Research overview
Research outcomes
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 also 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, to discover how they may contribute to cases of uncertain sex in children.
• Identified 74 candidate testis genes and nine potential ovary genes • Developed new techniques for analysing the function of genes in the gonad • Characterised gene alterations in intersex patients • Developed a new program to examine testicular cancer and male infertility
Novel genes in testis and ovary development We have recently identified 83 genes, which are new candidates for testis or ovary development. We will be further analysing their role in the development of these organs. The function of genes in ovary and testis development We are analysing the function of these newly identified genes in gonad development by over-expressing or down-regulating them in isolated gonads grown in vitro. This research will show whether a novel candidate gene can cause an undeveloped gonad to become a testis or an ovary. This will enable us to unravel the complex interactions between genes in this developmental network. 50 ^ ANNUAL REPORT 2002
Highlights of the year • Awarded Australian Research Council National Centre of Excellence grant $10 million • Andrew Sinclair nominated as President-Elect of the Australian Society for Medical Research • Kirsty Reed was awarded her PhD Major collaborators • Professors Vilian and Arnold UCLA USA • Professor Koopman QLD Major sponsors • National Health and Medical Research Council • Australian Research Council
Group Leader Associate Professor Andrew Sinclair sindairOcryptic.rch.unimelb.edu.au
Neonata T li
Research
WE AIM TO IMPROVE THE HEALTH AND WELLBEING OF SICK BABIES AND THEIR FAMILIES BY UNDERTAKING CAREFUL RESEARCH INTO THE CAUSES OF ILLNESS IN NEWBORNS, THE TREATMENTS USED AND THE LONG-TERM OUTCOMES. t/)
1
Research overview
Cytomegalovirus in breast milk
We conduct large, multicentre, randomised clinical trials of neonatal treatments supported by basic research and observational studies. Our aim is to improve the care and treatment of newborn babies, not only those who are born too early or too small, but also lower-risk, apparently healthy babies, and thereby improve their survival and long term outcome.
We investigated whether cytomegalovirus is transmitted to very premature babies from their mother's milk and whether it makes them ill. It appears that about half of mothers have CMV in their milk, but not until several weeks after birth. And about half their babies will become infected, although not all show signs of illness.
CPAP for very preterm babies
Systemic hypothermia for asphyxiated newborns
This project is a randomised controlled trial to investigate whether treating very premature babies with nasal CPAP immediately from birth reduces the incidence of chronic lung disease compared with ventilation. So far, 200 babies have been recruited from 15 centres. Lung injury after resuscitation Investigation of optimal resuscitation techniques for very premature babies has shown that the use of end expiratory pressure from the moment of birth appears to be beneficial. This is now proceeding to a clinical trial.
Of
O
a. m Of
I U Of
< LU 00 UJ
0£
This project is a multicentre randomised trial of whole body cooling to 34°C for term babies who have suffered asphyxia at birth, to determine whether this improves their neurological outcome. Highlight of the year • Completed and published a very large international trial Involving 1202 very premature babies Major collaborators • Richard Harding and Stuart Hooper, Monash University Major sponsors • National Health and Medical Research Council • Medical Research Council of Canada
Group Leader Professor Colin Morley colin.morley@wch.org.au
Dr Peter Dargaville Dr Peter Davis ANNUAL REPORT 2002
Neurosciences OUR RESEARCH IS AIMED AT UNDERSTANDING DISEASES AFFECTING THE NERVOUS SYSTEM OF CHILDREN IN ORDER TO LEAD TO PRACTICAL ADVANCES IN DIAGNOSIS AND CARE. WE STUDY EPILEPSY, NEUROMUSCULAR DISEASES AND THE CONSEQUENCES OF BOTH GENETIC DISEASES AND PREMATURITY ON THE DEVELOPING BRAIN. Epilepsy research We continued to identify the causes of epilepsy, and to provide improved treatment through advanced surgical techniques, new imaging modalities and clinical drug trials. Neuromuscular research We continued to develop novel treatments for muscular dystrophies and disorders of peripheral nerves.
•
Ingrid Scheffer identified new genes for some forms of intellectual disability and epilepsy
• Andrew Kornberg awarded a prestigious Muscular Dystrophy Association USA grant Major collaborators •
Brain Research Institute
Neurogenetic research
•
Melbourne Neuromuscular Research Institute
We focused on identifying the genetic and molecular basis of diseases of the nervous system in order to provide new diagnostic tests and improved genetic and prognostic counselling.
•
Howard Florey Institute
•
Brain Malformation Project, University of Chicago
•
Children's Hospital Boston, Harvard Medical School
Highlights of the year • Terrie Inder collected the world's largest cohort of babies with early brain injury for study using advanced imaging techniques
• CINRG, Children's National Medical Center, Washington DC • Washington University, St Louis
Neonatal research We concentrated on identifying those babies at greatest risk for brain damage from prematurity or hypoxic injury in order to guide improvements in therapy.
Group Leaders Associate Professor Andrew Kornberg andrew.kornberg@rch.org.au
Dr Simon Harvey Associate Professor Terrie Inder Dr Ric Leventer
52 ^ ANNUAL REPORT 2002
Orthopaedics & Gait Analysis
' ■
-
r
0T r,-i
ORTHOPAEDICS LOOKS AFTER CHILDREN WHO HAVE HAD BONE INJURIES AND THOSE WHO ARE AFFECTED BY CHRONIC DISEASES OF THE MUSCULOSKELETAL SYSTEM. GAIT ANALYSIS FOCUSES ON INVESTIGATING HOW CHILDREN WALK, WHAT CAN BE DONE TO HELP THEM WALK MORE EASILY, AND WHAT IMPACT LIMITED WALKING ABILITY HAS ON THEIR LIVES.
to 0£
Research overview The Hugh Williamson Gait Analysis Laboratory uses high technology equipment to measure a child's pattern of walking and the load he or she exerts 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 specific walking patterns within different patient groups to further our biomechanical understanding of these and to evaluate the effect of interventions based on this understanding. Classification of gait patterns Until recently, treatment for children with cerebral palsy has been based on the assumption that each child's walking pattern is unique. This project defined different patterns of walking, allowing children with diplegic cerebral palsy to be classified into specific groups, leading to easier identification of particular problems and better guidelines for treatment.
Group Leaders Professor H Kerr Graham kerr.graham@rch.org.au
a. lU
oc T.
U 0£
Research outcomes
<
•
Improved outcomes for children who have orthopaedic surgery for cerebral palsy
in
•
Developed a better understanding of why children have difficulty walking
•
Improved surveillance of hip displacement in children with cerebral palsy
•
Gained insight into the connection between peripheral treatments and changes in brain activity
UJ UJ
Highlights of the year • Anthony Schache awarded an NHMRC Postdoctoral Fellowship for research in the Hugh Williamson Gait Analysis Laboratory •
Brain reorganisation in children with hemiplegia Children who sustain a stroke can have lifelong difficulties using their arms, affecting their independence and vocation. This study has examined
O
the effects of upper limb training and Botulinum toxin A injections using serial functional brain imaging. It has provided greater insights into how the brain reorganises after peripheral treatments.
•
Kerr Graham and Richard Baker invited keynote speakers at the European Society for Movement Analysis in Adults and Children
Major collaborators
Major sponsors
•
•
Kerr Graham was awarded best science paper at the annual meeting of the Pediatric Orthopaedic Society of North America
Musculoskeletal Research Centre, La Trobe University
•
Brain Research Institute
•
•
Oxford Metrics
Nike
• Telstra • Allergan PLC Camp Ltd
Associate Professor Richard Baker
ANNUAL REPORT 2002
ii li 'f
Public Health & Genetics
Pituitary Research
WE EXAMINE THE UTILISATION OE GENETIC SERVICES AND THE IMPACT OF GENETIC TESTS ON COMMUNITY SUBGROUPS. OUR RESEARCH IN PRENATAL TESTING FOR BIRTH DEFECTS AIMS TO HELP WOMEN MAKE THE REPRODUCTIVE CHOICES BEST SUITED TO THEM AND THEIR FAMILIES.
MOST CHILDREN WHO ARE BORN WITH PITUITARY GLAND DEFECTS FAIL TO THRIVE, AND IN SOME CASES HAVE SEVERE SYMPTOMS WHICH ARE POTENTIALLY FATAL. A MAJOR AIM OF OUR RESEARCH IS TO DEVELOP STEM CELL-BASED THERAPIES FOR CHILDREN WITH PITUITARY DISORDERS.
Research overview
Research overview
We produced the annual report on all prenatal diagnostic testing for birth defects (amniocentesis and chorion villous samples) in Victoria and investigated the accuracy of second trimester maternal serum screening tests. We assessed the use of genetic counselling after a child was born with a genetic condition, and conducted a long-term follow-up of children with minor chromosomal abnormalities.
Approximately one in 2000 children have a pituitary disorder. Pituitary hormone deficiencies in children cause poor growth and metabolism, delayed puberty and an inability to deal with sickness and stress. We have identified genes that cause pituitary disorders in humans, using mouse models. Our long-term goal is to use pituitary stem cells to develop new therapies for pituitary disorders. Research outcomes
Research outcomes •
•
•
Identified that overall the number of prenatal diagnostic tests has decreased, whereas in younger women the number has increased as a consequence of more prenatal screening in this age group Found that individuals undergoing genetic testing for risk of familial bowel cancer are not suffering undue distress and are having appropriate bowel screening Found that many families with a child born with Down syndrome were not aware they could have genetic counselling
Flighlight of the year
•
Identified the causative gene and molecular basis for the severe disorder, X-linked Hypopituitarism
•
Isolated a new cell type from the pituitary that appears to be a stem cell
FJighlights of the year •
Presented at Institutes and Conferences in the USA, UK and Australia
•
Published five research papers in international journals including Nature Genetics
•
Paul Thomas awarded an NHMRC Career Development Award
Major collaborators
• Jane Flalliday awarded NFIMRC grant to study decision-making in prenatal testing
• Jozef Gecz, Women's and Children's Hospital, Adelaide
Major collaborators • Victorian Perinatal Data Collection Unit •
Birth Defects Register, Department of Human Services Group Leader Dr Jane Halliday Halliday@cryptic.rch.unimelb.edu.au
54 ^ ANNUAL REPORT 2002
Group Leader Dr Paul Thomas thomasp@cryptic.rch.unimelb.edu.au
I
sychological Deve opment Uj
s,t
ANXIETY, DEPRESSION, ATTENTION PROBLEMS, LEARNING DIFFICULTIES AND COGNITIVE IMPAIRMENTS CAN AFFECT RELATIONSHIPS, EMOTIONS, BEHAVIOUR AND ADAPTIVE FUNCTIONING. WE AIM TO LEARN MORE ABOUT THESE ISSUES IN ORDER TO DEVELOP EFFECTIVE PREVENTION AND INTERVENTION PROGRAMS. (/) Research overview Child neuropsychology studies investigated the impact of brain pathology across childhood to identify factors that predict short and long-term outcomes. This information will facilitate the development of early intervention programs designed to maximise recovery and quality of life. Clinical and developmental psychology research continued to identify risk factors associated with psychological disorders and emotional distress in childhood, and to evaluate treatment efficacy. Outcomes in type I diabetes We are examining central nervous system outcomes in young people with type I diabetes. This 12-year follow-up study will examine the neuropathological and neuropsychological correlates of type I diabetes in a cohort studied prospectively from diagnosis to maturity.
the general health, mental health, interpersonal relationships, body image, gender identity, and sexuality of patients with intersex conditions.
O Q. LU
Research outcomes
I U
•
Mapped the development of executive processing from early childhood to adulthood
<
•
Studies in type I diabetes defined the relative risks of hypoglycaemia and hyperglycaemia on the developing brain
UJ UJ Q/
Highlights of the year • Vicki Anderson appointed Professor of Psychology, Royal Children's Hospital •
Launch of two books: Developmental Neuropsychology: A clinical approach and Understanding Children and Families: Psychology Research at the Royal Children's Hospital
•
Elisabeth Northern awarded a Juvenile Diabetes Research Foundation International grant
Intersex conditions We are examining the long-term outcomes of children, adolescents and adults who were born with an intersex condition and treated at the Royal Children's Hospital. The research has been designed to determine the effect of medical treatment and management on
Group Leaders Professor Vicki Anderson v.anderson@psych.unimelb.edu.au
Major collaborators •
University of Melbourne
•
Children's Neuroscience Centre
•
Sydney Children's Hospital
• Toronto Hospital for Sick Kids
Dr Elisabeth Northam
ANNUAL REPORT 2002
55
WiSIcr-
s
m
miff"
a
Surgical Research OUR RESEARCH IS FOCUSED ON CONDITIONS IN CHILDREN THAT USUALLY REQUIRE SURGICAL TREATMENT WE AIM TO UNDERSTAND THE BASIC BIOLOGY OF THESE DISORDERS TO DETERMINE WHETHER LESS INVASIVE OR NON-SURGICAL TREATMENTS COULD BE USED INSTEAD OF SURGERY. INTESTINAL NEURONAL DYSPLASIA AND IMPAIRED MALE SEXUAL DEVELOPMENT (UNDESCENDED TESTIS AND SUBSEQUENT INFERTILITY) ARE KEY AREAS OF STUDY Slow transit constipation We have established new ways to diagnose and treat the disabling problem of constipation that has failed to respond to medical treatment. Pressure studies confirmed that muscle contraction in the large bowel is deficient in children with intestinal neuronal dysplasia, a condition in which the bowel nerves are
?■
formed abnormally, leading to severe partial blockage. This correlated with histological anomalies in the nerves. These studies will lead to major changes in the way we manage these children. Sexual development
Major collaborators
Our studies on testicular descent show that the testis grows towards the scrotum under the control of molecules released from a nerve. This discovery led to a complete revision of the way we understand descent of the testis, and is already changing our clinical approach to both undescended testes and inguinal hernia, the two commonest surgical problems in children. We also played a key role in an interdisciplinary follow-up study of people born with uncertain gender.
•
Howard Florey Institute
•
Department of Anatomy and Cell Biology, University of Melbourne
•
Department of Zoology, University of Melbourne
•
Queen Mary Hospital, Hong Kong
• Texas Medical Center Major sponsors •
National Health and Medical Research Council
•
Gotta Get a Life Foundation
• ABC Auxiliary Group Leader Professor John M Hutson john.hutson@rch.org.au 56 ^ ANNUAL REPORT 2002
•
Nidkids Support Group
GENETIC HEALTH SERVICES VICTORIA
Director's Report ic Health .. ............... ,,, ........................................... I Genetic Health Services Victoria is a partnership between the MCRI, Department of Human Services (DHS), other health service providers and the community. Growing demands for and the increasing complexity of Genetic Services means that we have to plan strategically, prioritise effectively and work efficiently, whilst continuing to strive to maintain excellence in clinical and laboratory diagnosis and in counselling, education and research! These high ideals require a high level of teamwork, commitment and excellence. Genetic Health is fortunate to have the calibre of staff and line-managers who together can achieve these ideals. Their commitment and enthusiasm is much appreciated. There are growing needs for genetic services and the choices in genetic testing are increasing both in number and complexity. Achieving adequate funding for service delivery is a continuing challenge. Genetic Health is fortunate to have the benefit of the Chief Operating Officer, Anne Cronin, and appreciate her expertise in financial management. Funding laboratory equipment to introduce state-of-the-art technologies is particularly challenging. In the past year, in addition to submissions to the DHS for funding, we have turned to philanthropies in our community for assistance. Their generosity and a grant from the DHS have made it possible to purchase a gene sequencer. This provides outstanding benefits, as we will be able to deliver current gene tests more efficiently and to provide new tests to those in need. With support from Lisa Thurin from the Gandel Charitable Trust, we are now in the process of fundraising for a second tandem mass spectrometer (TMS) for the newborn screening and metabolic services. We are grateful to the Gandel Foundation ANNUAL REPORT 2002
for hosting a boardroom lunch and introducing Ill Genetic Health to a number of philanthropic organisations. A second TMS is essential for reliable delivery of the newborn screening program, and the development of new tests, for the management of patients with metabolic disorders. The generosity of the Lefroy family led to the establishment of the Bruce Lefroy Centre for Genetic Health Research, within the MCRI, which will facilitate research in Genetic Health and foster collaborations with research teams in MCRI. We are pleased to announce the appointment of Martin Delatycki as the foundation Director and look forward to his research initiatives in neurogenetics and community genetics. Having completed his five-year term with Genetic Health Services, Stephen Kahler returned to the United States to head the Clinical Genetics Service of the Johns Hopkins Hospital in Baltimore. We congratulate him on his appointment and wish him every success. The past year has seen the implementation of the majority of the goals and strategic plans developed by Genetic Health Services in December 2001. This resulted in a number of exciting developments, which are the subject of the current Annual Report. Please see our website for further information on our services and staff.
Agnes Bankier Director vwvw.genetichealthvic.net.au
a,:
■
The appointment of Martin Delatycki as foundation Director will enhance this endeavour. Martin, a clinical geneticist with expertise in neurogenetics, obtained his PhD for Friedreich ataxia research, helped established paediatric and adult neurogenetic services in Victoria, and plans to establish neurogenetic research. He has an interest in genetic screening and runs the HaemScreen and Tay Sachs Prevention programs. Neurogenetics — partnership in service delivery
The Bruce Lefroy Centre — for genetic health research Bruce Lefroy is a special young man, who is much loved and respected by his family and his local community. Bruce has Pitt-Rogers-Danks syndrome, a condition first identified internationally by us almost 20 years ago. We are delighted that in recognition of his care and of Bruce's own contribution to society, the Lefroy family has supported the establishment of the Bruce Lefroy Centre for Genetic Health Research. Clinical and laboratory research ensure that our services are actually beneficial, that they are effective and fulfil families' needs for genetic diagnosis, counselling and care, and increase awareness of the positive contributions made by individuals with genetic disorders. We thank the Lefroy family for the opportunity to progress genetic research and our collaborations nationally and internationally.
We have established adult neurogenetic services in six Melbourne metropolitan hospitals and Hobart, and paediatric neurogenetic clinics in the Royal Children's Hospital (RCH) and Monash Medical Centre (MMC). Monthly specialty neurogenetic clinics are also conducted for neurofibromatosis (RCH), brain malformation (RCH) and Friedreich ataxia (MMC). All clinics are run in conjunction with neurologists and other health professionals. We run a predictive testing program for Huntington disease and other neurogenetic conditions for which gene testing is available before the onset of symptoms.
Mac Gardner — a man for all seasons Dr Mac Gardner joined Genetic Health 10 years ago. After training in New Zealand, he spent a number of years at the Institute of Child Health (London), the University of Edinburgh, the Hopital Enfants-Malades (Paris) and the Hospital for Sick Children (Toronto). At one stage, he was the sole geneticist in New Zealand, conducting clinics from Auckland in the north to Invercargill in the south. He developed a particular interest in chromosome disorders and co-wrote a text book Chromosome Abnormalities and Genetic Counselling, which first appeared in 1989 and became a standard reference book throughout the English-speaking world. Mac is multi-talented. He set up new clinics in Warragul, Ballarat, Bendigo, Shepparton and Mildura. In the area of adult genetics, he consults at family cancer clinics and initiated neurogenetic joint services at several metropolitan hospitals. His expertise and interest led to publication on four new genetic ataxia syndromes identified through the neurogenetic clinics. His clinical activities have provided the basis for active clinical genetic research and publication of some 100 papers — no mean feat for a full time clinician!
< Of
O u > 111
u > C£ 111 l/J
I < 111
I
u 111
z LU
O
The neurogenetics team was active in research in 2002. DNA was obtained for ongoing genetic studies from a number of families with autosomal dominant neurogenetic conditions, including families with ataxia and hereditary spastic paraparesis. Staff of the Friedreich ataxia clinic have been conducting research into cardiac and orthopaedic aspects of the condition and are preparing to undertake drug trials In 2003. The predictive testing team has published in the British Medical Journal on ethical aspects of Huntington disease predictive testing. ANNUAL REPORT 2002
8”
:!i!
New Gene Sequencer In mld-2002, automatic sequencing technology was introduced into the repertoire of the laboratory technology with the purchase of a Capillary Sequencer, made possible by a grant from the DHS and the generosity of private philanthropies including the Pratt and Gandel Foundations. Automatic gene sequencing technology allows the laboratory to maintain Its leadership in a very dynamic field with Increasing demands for new gene tests such as testing for the retinoblastoma gene. This new technology accommodates hi-throughput analyses with minimal labour increases, making it possible to provide population screening for specific genetic disorders to high-risk communities or to the population at large. Tay Sachs screening to the Ashkenazi Jewish community and cystic fibrosis screening to couples undergoing family planning, are examples of this. Desiree du Sart — our tall poppy Dr Desirbe du Sart joined the Murdoch Institute in 1988 after training as a medical scientist in haematology, immunohaematology and cytogenetics. She was awarded her PhD for research on the structure of the human centromere. In 1998, she received the prestigious Premier's Commendation for Medical Research Award, and in 1999 was distinguished as a High Achiever and honoured with the Tall Poppy Award by the Australian Institute of Political Sciences. Desiree is the official HGSA consultant to the National Association of Testing Authorities (NATA) for medical testing in molecular genetics. Her combined background in cytogenetics, molecular genetics and the major pathology fields.
60 ^ ANNUAL REPORT 2002
provides Desiree with the skills and insight to lead our Molecular Diagnostic laboratory, which provides many diagnostic services for all of Victoria and Tasmania. Her collaborative research interests are cystic fibrosis (disease severity and immune response), gene therapy in spinal muscular atrophy and new pathways leading to the development of familial polyposis and colon cancer. Amber Boys — an excellent new recruit Amber joined our Cytogenetics laboratory as a medical scientist in 2002. She is a genetics graduate of Latrobe University with a background in molecular biology. Just one year on. Amber is a fully-trained
cytogenetics analyser, and is now using her molecular biology experience in research. Amber is collaborating on a project examining children with problems who inherit the same unbalanced chromosomal aberration as that carried by their phenotypically normal parent — an interpretive dilemma with regards to determining clinical significance and reproductive risk. Amber's work is an example of how molecular techniques can provide more accurate information about the inheritance of chromosomal aberrations, which turn out to be "not as simple as they seem". First Trimester Screening We have reviewed the results of our pilot first trimester of pregnancy screening program for Down syndrome and other conditions. This test combines biochemical tests done in our prenatal screening laboratory with an ultrasound examination done by ultrasound practices in Victoria. Our clinical team coordinates the results. In the first two years, we tested just under 12,000 women and detected 37 pregnancies affected by Down syndrome, eight TrisomylS, 15 other chromosomal abnormalities and 282 non-viable pregnancies. The detection rate for Down syndrome was 93 per cent, the highest detection rate reported in the world! This program has been successful due to the combined skill of our genetic counsellors, administrative and laboratory staff who work closely with many ultrasound specialists in geographically separate practices. Close collaboration and an intensive effort by Robin Forbes and the team means that most results are available within half an hour after the ultrasound — a fast turnaround that Is the envy of other similar programs!
F
%
it
Newborn Screening
Genetic Support Network Of Victoria
Introduction of the Tandem Mass spectrometer (TMS) in February 2002 significantly increased the number of treatable disorders for which effective newborn screening can be offered. In addition to the three conditions originally screened — Phenylketonuria, Cystic Fibrosis and Hypothyroidism — the screening panel now offers diagnosis for some 20 errors of Amino acid and Fatty acid metabolism, some of which cause mental retardation whilst others can be fatal in the absence of early intervention.
This year, the Genetic Support Network of Victoria (GSNV) held the first ever conference of genetic support groups in Victoria. This was an exciting opportunity for a diverse group of people affected by genetic conditions to come together and share strategies for their shared vision of overcoming genetic challenges. Their new website was also launched, leading to more people contacting the GSNV seeking support and information for their genetic condition at www.gsnv.org.au
The success of the program has relied on close collaboration with 1000 maternity hospitals in Victoria, who collect the blood samples, and our Metabolic Service who investigate and treat these babies. Although individually each condition is relatively rare, the capacity of TMS to simultaneously test for these disorders has allowed the screening of 63,000 infants and the detection in 2002 of 15 children affected by these conditions.
ft
The rapid diagnosis before the baby becomes symptomatic has the potential of reducing morbidity and mortality. We collaborate with the other states both retrospectively and prospectively, looking into the outcome of babies diagnosed in this way, and the other medical aspects of this novel program.
Consumer Consultation Genetic Health has a commitment to ensuring services are consumer-focused, implementing a number of strategies to this end, including: • A panel of community consultants — lay people who contribute to the planning of services • A "Frequently Asked Questions about Genetics" booklet, which is given to all families •
Forums to identify and prioritise the concerns of consumers and service providers with regard to service provision
Regional Services A new initiative in 2002, identified by the Rural and Regional Genetic Services strategic planning workshop, is the establishment of regional genetics steering committees. The aim is to involve local medical practitioners, allied health staff and consumers in the development of genetic services appropriate to each region, recognising that each has slightly different needs. To date, committees have been established in Geelong and Warrnambool, with plans in progress for Ballarat, Bendigo and Wodonga. ANNUAL REPORT 20i»M i • I m
Education and Training Genetic Health has a proud history in training geneticists and genetic counsellors who now work in all Australian genetic services and increasingly in the Asia-Pacific. In 2002, we had four clinical genetics trainees undergoing full training, as well as a clinical genetics trainee from Singapore and a metabolic physician trainee from Hong Kong. Genetic Health achieved formal accreditation by the Royal Australasian College of Physicians as a training centre for clinical geneticists for the next five years, and was highly commended on its training facilities. Associate Professor Ravi Savarirayan is Head of Training and Dr Clara Gaff, senior genetic counsellor, is Head of Postgraduate Education. Our Diploma and Masters programs for genetic counsellors, conducted with MCRI under the auspices of the University of Melbourne, are gaining an international recognition under the guidance of Convenor Margaret Sahhar. We are developing; •
Exchange of students for clinical rotations with the UK and the USA
•
Participation in the internship program at the University of Melbourne
•
Established academic links and tutor exchange with the Manchester Masters
•
Collaboration with Director, Janice Edwards, Columbia University, South Carolina USA training program, to submit abstracts for academic meetings
Genetic Health had 17 associate genetic counsellors in training in 2002, who all participate in ongoing training and education activities under supervision, as well as performing relevant research in their fields. Margaret Sahhar — 27 years of service Margaret trained in psychology and social work at the University of Melbourne, graduating in 1970. She started working in social work at the Royal Children's Hospital in 1973. Margaret transferred to Genetic Health in 1988 to provide a social work counselling service that was pivotal in assisting families attending the clinics, establishing genetic support groups and recognising the importance of continuum of care. Over 30 genetic support groups were established with strong community contacts, culminating in 1999 with the establishment of the
mm
• ^
62 ^ ANNUAL REPORT 2002
Genetic Support Network of Victoria. Margaret was invited to join the HGSA Committee in 1988 to establish guidelines for training genetic counsellors. Together with Les Sheffield, she established the first training program at Genetic Health and in 1996 the Graduate Diploma in Genetic Counselling was established through the University of Melbourne, generously supported by Genetic Health and MCRI. Margaret is the convenor of this course, which has trained over 60 genetic counsellors, and she continues in her clinical social work role.
Genetic Health Staff List Chairman Professor Robert Williamson Director A/Prof Agnes Bankier Chief Operating Officer Anne Cronin Clinical Geneticists Dr David Amor A/Prof Agnes Bankier Dr Martin Delatycki Dr Stephen Kahler Dr Mac Gardner Dr John Rogers A/Prof Ravi Savarirayan A/Prof Les Sheffield Dr Sue White Metabolic Physician Dr Avihu Boneh Clinical Genetics Fellows Dr Michael Fahey Dr Marion Harris Dr Joanni Hui (from August) Dr Paul James (from June) Dr Angeline Lai (from August) Dr George McGillivray Dr Julie Panetta (to July) Dr Charlotte Whitelaw (to August) POSSUM Project /VProf Agnes Bankier Dr Catherine Rose Margaret Shaw Genetic Counsellors Lara Fitzgerald Dr Clara Gaff Lisa Gordon Margaret Ross Linda Warwick Associate Genetic Counsellors Sonja Bade Dr Jo Burke Lisette Curnow Susan Fawcett Jacqueline Greenberg Tarli Hall Anna Henry
Victoria Hill (from June) Ivan Macciocca Michelle Mourik Vicky Petrou Miriam Rodrigues (to November) Kathryn Ruivenkamp (from December) Michelle Seipolt Edi Sheffield Alison Thornton Jonathan Whitty Mary-Anne Young Senior Social Worker Margaret Sahhar Social Workers Caroline Lambert Ros Tassicker Principal Genetic Counsellor/ Privacy Officer Dr Samantha Wake Program Coordinator/ Quality Assurance Officer Robin Forbes Metabolic Dietitian/ Associate Genetic Counsellor Dorothy Francis Metabolic Nurse Helen Upton Administration Services Manager Margaret Harris Personal Assistant to Director Dominique Speirani Clinic Coordinators Debbie Davis Michelle Francazio Sue Hilton Sharon Vandersluis Administrative Support Vicky Hannan Liz Kanellos Maureen Ralph Amy Niselle Jo Wells
Laboratory Quality Assurance Officer Anne Robertson
'M Con Ngo Vlad Pupko Lynne Ryan Marie Thorpe
Cytogenetics Laboratory Head Dr Howard Slater Deputy Head Mark Pertile Head of Postnatal Genetics Jacinta Ryan Administration Mariah Everard Bo Jezierski Fiona Kelty Section Leaders Trent Burgess David Francis Dr Lorna Webber Team Leaders Alison Blackstock Kathy Butler Melissa Curtis Louise Hills Fiona Norris Sara Nouri Ralph Oertel Vida Petrovic Scientists Amber Boys Jacquie Challis Selga Cirulis Samantha Connors Sylvea Corrie Michael Cronin Tracy Fleming Wendy Francis Nancy Garavelas Olivia Giouzeppos Melissa Glass Lily Gowans Julie Hammer Helen Jackson David Jones Jo Kelley Dr Tie Lan Han
Technologists Ian Brooks Alan Corral Lisa Di Prinzio Wall Drummond Monika Kemena Lynda Phillips Paul Yao
Molecular Genetics Laboratory Head Dr Desiree du Sart Scientists Vanessa Calabro (to September) Shannon Cowie Yvette Curl is (from July) Karina Forshaw (to April) Maria Kaps (from April) Steve Nasioulas Sarah-Jane Panteleo Dean Phelan Janet Shaw Melanie Smith Anna Wakefield (from September) Laboratory Technician Tom Milovac Student Michael Krypuy
Newborn Screening Scientist-in-Charge Nick Tzanakos Medical Scientists Manal Ibrahim Nella Napolitano Thanh Nguyen Education Officer Helen Upton
'
Metabolic Screening Senior Scientist James Pitt
I
L
Scientists Mary Eggington Michael Meng
< 0£
Maternal Serum Screening
o
Scientist-in-Charge Ivan Francis
I-
U
> (/)
Medical Scientists Leonard Bonacquisto Vivienne laschi Vicki Katsonis Gregoria Luna
ui
U
> C6
Phlebotomist Sara Grant
111
1/1
X
Laboratory Assistants Olivia Motion Mandy Parfitt Patricia Snell
< 111
X VCGS Specimen Reception Cristine Carter Caroline Schram
(J IlU
Z
Mitochondrial Diagnostic Laboratory
HI
O
Laboratory Head Dr David Thorburn Research Officer Denise Kirby Research Assistant Taryn Charles Quality Officer Erin Oldaker GSNV Caroline Bowditch (to June) Eilis Hughes Emma Rickard (from July)
ANNUAL REPORT 2002
63
'l
Murdoch Childrens Research Institute and its controlled entities
Statements of Financial Position as at 31 December 2002 li
CONSOLIDATED
CURRENT ASSETS Cash assets Receivables Other financial assets " TOTAL CURRENT ASSElfl
sm
NON-CURRENT ASSETS Receivables Other financial assets Property, plant & equipmerit_^ rTOTAL NON-CURRENT ASSETS I TOTAL ASSETS CURRENT LIABILITIES Payables Provisions ' TOTAL CURRENT LIABILITIES
THE COMPANY
2002
2001
2002
$
$
$
2,103,754 4,994,319 1,013,959 pfi 12,032
2,546,508 3,565,300 205,642 6,317,450
2,033,018 3,633,782 499,999 6,166,799
1,701,960 2,146,914
507,500 23,361,101 6,125,403
580,000 27,940,657 _3,874,226_
515,468 23,353,143 5,896,570 ”*29,765,181 35,931,980
587,968 27,832,699 3,738,016^^
29,994,004 38,106,036
;
32,394,883 38,712,333
3,848,87#^
32,158,6831
!
36,007,557 ■
2,102,825
2,323,669 3,064,014
1,821,876 1,574,196
1,657,765 1,810,232
• •
2,762,932 4,865,757
5,387,683
3,396,072
3,467,997 1
Payables Provisions TOTAL NON-CURRENT LIABILITIES ' ... ..Yiiiiii, ,,T;0TAL LIABILITIES
176,523 568,829 745,352 5,611,109
82,175 ASlA^l
83,281 317,533
539,622 5,927,305
400,814 3,796,886
28,028 242,175 270,203 3,738,200
^
32,494,927
32,785,028
32,135,094
32,269,357
1,013,749 26,258,827 2,600,000 1,000,000 1,222,351 400,000
515,671 26,258,827 2,600,000 1,000,000 1,372,120 1,038,410
26,258,827 2,600,000 1,000,000 1,372,120 1,038,410
32,494,927
32,785,028
653,916 26,258,827 2,600,000 1,000,000 1,222,351 400,000 32,135,094
'
'
NON-CURRENT LIABILITIES
NET ASSETS
<•
MEMBERS' FUNDS Accumulated funds Permanent Investment Funds Building Development Fund Fellowships & Scholarships Fund Special Purpose Funds Asset Revaluation Reserve TOTAL MEMBERS' FUNDS
66 ^ ANNUAL REPORT 2002
32,269,357
I
.
i
Murdoch Childrens Research Institute and its controlled entitles
Statements of Cash Flows for the year ended 31 December 2002 THE COMPANY
CONSOLIDATED
NOTES 2002
2001
2002
$
$
$
$
cc O a.
CASHFLOWS FROM OPERATING ACTIVITIES
U1
Payments to suppliers and employees
(34,673,459)
(29,458,364)
Government grants received
11,144,366
8,695,357
C£
(25,573,505)
(21,697,628)
6,842,066
4,504,375
< U
Donations received
2,888,713
2,075,609
2,888,713
2,075,609
Other receipts
18,876,175
14,890,263
18,306,093
14,275,168
Interest received
127,252
96,243
102,098
58,573
f Patient fees received
3 755 852
z < z 11.
'
I
NET CASH PROVIDED BY/(USED IN) OPERATING ACTIVITIES
2,1 18,899‘h*
(504,336)
2,565,465
(783,903)
CASH FLOWS FROM INVESTING ACTIVITIES Distributions/Interest received
1,641,136
735,344
1,626,047
716,066
Proceeds on sale of investments
1,600,000
3,600,000
1,500,000
3,500,000
Payment for investments & amounts reinvested
(1,476,334)
(816,461)
(1,372,775)
(716,065)
17,680)
,^1,568,555)
^ Payment for property, plant and equipment'::(3,621,675)
LnET-CASH provided BY/(USED IN) ij^vesiing activities
. ^51
i1,618,022) I
1
(1,116-873) .
1,900,861
NET INCREASE/(DECREASE) IN CASH HELD
262,026
1,396,525
831,057
1,147,543
CASH AT BEGINNING OF THE FINANCIAL YEAR
2,577,242
1,180,717
1,701,960
554,417
fASH AT END OF THE FINANCIAL YEAR
2,839.268
2,533^7^ a-i^iTToToeSIl
ANNUAL REPORT 2002
67
OPERATING REVENUE
OPERATING EXPENDITURE
40
40
35
35
i/i
30
Q
25
1
20
20
15
15
1/1
z o
Z
10
5
1993
1994
1995
nil 1996
1997
1998
1999
30
25
10 5
; 2000
2001
1993
2002
1994
1995
1996
1997
YEAR
1998
1999
2000
2001
YEAR
INCOME - SOURCES OF FUNDS
EXPENSES - APPLICATION OF FUNDS I Development & Fund Raising 1 % Administration 4% B Operating & Maintenance 6%
B Clinical Services 25%
B Education & Ethics 1 %
B Donations 8%
B Clinical Services 25%
B Investment & Other Income 14%
B Service Labs 2%
B Research Grants 53%
B Research Groups 61 %
®t)..
I
THE YEAR IN BRIEF
Expendituretftn: Peseai^l STAFF (EFT) 'li
*;
68 ^ ANNUAL REPORT 2002
1999 181
2000
2001
»•
i $30,484,692
420
517 (329.55)
2002 -
$38,050,137
% CHANGE FROM LAST YEAR '
24.82
618 (381.62)
19.54 (15.80)
STUDENTS
12
37
70
99
41.43
TOTAL STAFF & STUDENTS
193
457
587
717
22.15
s
2002
.1
■a
Publications 2002 Albisetti M, Chan AK, Wong D, McCrindle B, Vegh R 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 (in press) Albisetti M, Monagle P and Andrew M. Haemostatic Abnormalities. In: Werner E and De Alarcon P (eds). Neonatal Hematology. Cambridge University Press: New York (in press) Aldred MJ, Hall RK, Kilpatrick N, Bankier A, Savarirayan R, Lamande SR, bench NJ and Crawford PJM. Molecular genetic analysis for genetic counselling in amelogenesis imperfecta. Oral Diseases 8: 1-5 (2002) Aldred MJ, Rajakuman SA, Zacharin M and Trembath R. Detection of McCune Albright syndrome in lymphocyte DNA using PNA clamping. Journal of Clinical Endocrinology and Metabolism (in press) Aldred MJ, Savarirayan R, Lamande SR and Crawford PJM. Clinical and radiographic features of a family with autosomal dominant amelogenesis imperfecta with taurodontism. Oral Diseases 8: 62-68 (2002) Algar E. The Wilms tumor 1 gene in haematopoiesis and leukaemia. Journal of Hematotherapy and Stem Cell Research 11: 589-599 (2002) Allen K, Warner B and Delatycki MB. Clinical haemochromatosis in HFE mutation carriers. Lancet 360: 412-413 (2002) Amor DJ. Morbid obesity and hyperphagia in the WAGR syndrome. Clinical Dysmorphology 11: 73-74 (2002) Amor DJ and Choo KHA. Neocentromeres: role in human disease, evolution, and centromere study. American Journal of Human Genetics 71: 695-714 (2002)
i
Amor DJ, Tudball C, McKindlay Gardner RJ, Lamande SR, Bateman JF and Savarirayan R. Familial digital arthropathybrachydactyly. American Journal of Medical Genetics 108: 235-240 (2002) Anderson D, Harvey AS, Saiing MM, Anderson V, Kean M, Jacobs R, Abbott DF, Wellard RM, Puce A and Jackson G. Differential functional magnetic resonance imaging language activation in twins discordant for a left frontal tumor. Journal of Child Neurology 17: 766-769 (2002) Anderson P. Assessment and development of executive function. Child Neuropsychology 8: 71-82 (2002) Anderson P and Dewan PA. Catheter-less cohen transtrigonal ureteric reimplantation. British Journal of Urology 89 (7): 722-725 (2002) Anderson V. Advances in paediatric neuropsychology: An Australian perspective. Brain Impairment (in press)
70 ^ ANNUAL REPORT 2002
Anderson V. Executive function in children: An introduction. Child Neuropsychology 8: 69-70 (2002) Anderson V. Outcome and management of traumatic brain injury in childhood. In: Wilson B (ed) Neuropsychological Rehabilitation: Theory and Practice. Swets and Zeitlinger: Netherlands (in press) Anderson V. Pediatric head injury. In: Rizzo M and Esiinger P (eds). Principles of behavioral neurology and neuropsychology. Harcourt Health Sciences: Philadelphia (in press) Anderson V, Anderson R Northern E, Jacobs R and Mikiewicz 0. Relationships between cognitive and behavioral measures of executive function in children with brain disease. Child Neuropsychology 8: 231-240 (in press) Anderson V and Jacobs R. Frontal lobe damage in children: Interruptions to normal development. In: Nolin P and Laurent JP (eds). Enfance and neuropsychologie: Interface entre la recherche et la Clinique. Press de I'universite du Quebec: Montreal (in press) Anderson V, Levin HS and Jacobs R. Executive functions following frontal lobe injury: A developmental perspective. In: Stuss D and Knight R (eds). Principles of Frontal Lobe Function (2002) Andrulis IL, Anton-Culver H, Beck J, Bove B, Boyd J, Buys S, Godwin A, Hopper J, Li R Neuhausen S, Ozcelik Peel DH, Santella R, Southey van Orsouw N, Venter DJ, Vijg J and Whittemore A. Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations. Human Mutation 20: 65-73 (2002) Arenas J, Briem E, Dahl HHM, Hutchison W, Lewis S, Martin MA, Spelbrink H, Tiranti V, Jacobs H and Zeviani M. The V368I mutation in Twinkle does not segregate with autosomal dominant progressive external ophthalmoplegia (adPEO). Annals of Neurology (in press) Armes JE and Venter DJ. The pathology of inherited breast cancer. Pathology 34: 309-314 (2002) Armstrong DA, Nixon GM, Carzino R, Bigham A, Carlin JB, Robins-Browne RM and Grimwood K. Detection of a widespread clone of Pseudomonas aeruginosa in a pediatric cystic fibrosis clinic. American Journal of Respiratory and Critical Care Medicine 166: 983-987 (2002) Badea L, Doughty S, Nicholls L, Sloan J, Robins-Browne RM and Hartland EL. Contribution of Efal/LifA to the adherence of enteropathogenic Escherichia coli to epithelial cells. Microbial Pathogenesis (in press) Baker R, Jasinski M, Maciag-Tymecka I, Bonikowski M, Carr L, Maclean J, Lin JP, Lynch B, Theologis T, Wendorff J, Eunson P and Cosgrove A. Botulinum toxin treatment of spasticity in diplegic cerebral palsy: A randomized, double
blind, placebo controlled, dose-ranging study. Developmental Medicine and Child Neurology 44: 666-675 (2002) Bankier A. Ethical dilemmas in genetic medicine. Current Therapeutics May: 6-9 (2002) Bankier A. Ethical dilemmas in genetic medicine. New Ethical Journal July: 11-140 (2002) Barnes C, Downie P, Chalkiadis G, Camilleri S, Monagle P and Waters K. Sedation practices for paediatric oncology patients having diagnostic or therapeutic procedures: An ANZCCSG group wide survey. Journal of Paediatrics and Child Health 38(2): 170-172 (2002)
Australian Paediatric Endocrine Group. Medical Journal of Australia (in press) Bateman JF. Protein truncation test. Wiley Encyclopedia of Molecular Medicine: 2652-2654 (2002) Bates D, Taylor Gl and Newgreen DF. The pattern of neurovascular development in the forelimb of the quail’ embryo. Developmental Biology 249: 300-320 (2002) Bennett D, Orr D, Beverland D and Baker R. The influence of shape and sliding distance of femoral head movement loci on the wear of acetabular cups in total hip arthroplasty. Proceedings of the Institute of Mechanical Engineering, Part H, Journal of Engineering in Medicine (in press)
Barnes C, Ignjatovic V, Newall F, Carlin JB, Ng R Hamilton S, Ashley DM, Waters K and Monagle P. Change in serum procaicitonin (PCT) predicts the clinical outcome of children admitted with febrile neutropenia. British Journal of Haematology 118(4): 1197 (2002)
Bernier FR Boneh A, Dennett X, Chow CW, Cleary MA and Thorburn DR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 59: 1406-1411 (2002)
Barnes C, Newall R Higgins S, Carden S and Monagle P. Perinatal management of patients at high risk of homozygous protein C deficiency. Thrombosis and Haemostasis 88(2): 370-371 (2002)
Bines JE and Ivanoff B. Acute intussusception in infants and children. Incidence, clinical presentation and management: a global perspective. World Health Organization, Geneva (2002)
Barnes C, Newall F and Monagle P. Post thrombotic syndrome. Archives of Diseases in Childhood 86: 212-214 (2002)
Bines JE, Taylor RG, Justice R Paris MCJ, Sourial M, Nagy E, Emselle S, Catto-Smith AG and Fuller PJ. The influence of diet complexity on intestinal adaptation following massive small bowel resection in a preclinical model. Journal of Gastroenterology and Hepatology (in press)
Barnes C, Newall F and Monagle P. Thrombotic complications related to indwelling central venous catheters in children with oncological/haematological diseases: a retrospective study of 362 catheters. Supportive Care in Cancer 10(3): 256-257 (2002) Barnes GL, Lund JS, Mitchell SV, De Bruyn L, Piggford L, Smith AL, Furmedge J, Masendycz PJ, Bugg HC, Bogdanovic-Sakran N, Carlin JB and Bishop RR Early phase II trial of human rotavirus vaccine candidate RV3. Vaccine 20: 2950-2956 (2002) 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 (in press) Barnett S, Reilly S, Carr L, Ohiowele I, Charman T and Beales P. Behavioural phenotype of Bardet-BiedI syndrome. Journal of Medical Genetics 39(12): e76 (2002) Bartlett JE, Lee SMY, Mishina Y, Bejringer RR, Yang N, Wolf J, Temelcos C and Hutson JM. Gubernacular development in mullerian inhibiting substance receptor-deficient mice. British Journal of Urology International 89: 113-118(2002) Batch JA, Couper JJ, Rodda C, Zacharin M and Cowell CT. The use of bisphosphonate therapy for osteoporosis in childhood and adolescence - A position paper of the
Bines JE, Truby HD, Armstrong D, Phelan PD and Grimwood K. Energy expenditure in infants and children with cystic fibrosis. Journal of Pediatrics 140: 527-533 (2002) Bond L, Davis G, Carlin JB, Lester R and Nolan T. Increases in vaccination coverage for children in childcare between 1997 to 2000: an evaluation of the impact of government incentives and initiatives. The Australian and New Zealand Journal of Public Health 26: 58-64 (2002) Boneh A. A model for PKC involvement in the pathogenesis of inborn errors of metabolism. Trends in Molecular Medicine 8: 524-531 (2002) Boneh A, Greaves RR Garra G and Pitt JJ. Metabolic treatment of pregnancy and post-delivery period in a patient with cobalamin A disease. American Journal of Obstetrics and Gynecology 187: 225-226 (2002) Bornstein R Walsh V, Tullis J, Stainbrook E, Bateman JF and Hormuzdi SG. The globular domain of the proalphal(l) N-propeptide is not required for secretion, processing by procollagen N-proteinase, or fibrillogenesis of type I collagen. Journal of Biological Chemistry: 2605-2613 (2002) Bouras T, Southey MC, Chang AC, Reddel RR, Wilhite D,
I Glynne R, Henderson MA, Armes JE and Venter DJ. Stanniocalcin 2 is an estrogen responsive gene coexpressed with the estrogen receptor in human breast cancer. Cancer Research 62: 1289-1295 (2002) Boyd RN. Physiotherapy assessment and outcome measurement in children with cerebral palsy. Management of the motor disorders of children with cerebral palsy. In: Scrutton D, Damiano D and Mayston M (eds). Clinics in Developmental Medicine. MacKeith Press: London (in press) Boyle RJ, Curtis N, Kelly N, Garland SM and Carapetis JR. Clinical implications of inducible beta lactamase activity in Gram negative bacteremia in children. Pediatric Infectious Diseases 21: 935-939 (2002) Braverman N, Chen L, Lin P, Obic C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H and Valle D. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Human Mutation 25: 284-297 (2002) Bretherton L. Relationships between cognitive variables, memory and phonological awareness in children with a specific reading disability. Australian Journal of Learning Disabilities 7: 4-12 (2002) Brown S, Small R, Faber B, Krastev A and Davis P. Early postnatal discharge from hospital for healthy mothers and term infants. Cochrane Database of Systematic Reviews 3 (CD00295S) (2002) Bryant P, Carapetis JR, Matussek J and Curtis N. Recurrent crepitant cellulitis caused by Clostridium perfringens. Pediatric Infectious Diseases 21: 1173-1174 (2002) Bryant P, Morley CJ, Curtis N and Garland SM. Cytomegalovirus transmission from breast milk in premature babies: does it matter? Archives of Disease in Childhood - Fetal and Neonatal edition 87(2): 75-77 (2002) Bui TP, Werther GA and Cameron FJ. Trends in diabetic ketoacidosis: a fifteen year experience: In childhood and adolescence. Pediatric Diabetes 3: 82-88 (2002) Buttery JP. Blood cultures in newborns and children: optimising an everyday test. Archives of Disease in Childhood - Foetal and Neonatal edition 87: 25-28 (2002) Buttery J and Moxon ER. Capsulate bacteria and the lung. British Medical Bulletin 61: 63-80 (2002) Button BM, Heine RG, Catto-Smith AG, Olinsky A, Phelan PD, Ditchfield MR and Story I. Chest physiotherapy in infants with cystic fibrosis: to tip or not to tip? A five year study. Pediatric Pulmonology (in press) Bydder 5, Charles A, Hewitt I, Walpole I, Algar E, Smith N
and Phillips M. Wilms tumor in a pediatric renal transplant recipient with unexpected Denys-Drash syndrome. Transplant Proceedings 34: 3203-3204 (2002) Callaghan S, Copnell B and Johnston L. Comparison of two methods of peripheral intravenous cannula securement in the paediatric setting. Journal of Infusion Nursing 25: 256-264 (2002) Cameron FJ, Clarke C, Hesketh K, White EL, Boyce DF, Dalton VL, Cross J, Brown M, Thiess NH, Pallas G, Goss PW and Werther GA. Regional and urban Victorian diabetic youth: clinical and quality of life outcomes. Journal of Paediatrics and Child Health 38: 593-596 (2002)
thrombin generation in plasma from newborns and children compared to plasma from adults due to reduced thrombin potential. Thrombosis and Haemostasis: 606-613 (2002) Chan SWL and Choo KHA. Nucleic acids hybridisation. Encyclopedia of the Human Genome. Nature Publishing Group (in press) Change AB, Grimwood K, Mulholland EK and Torzillo PJ. Working group on indigenous paediatric respiratory health. Bronchiectasis in indigenous children in remote Australian communities. Medical Journal of Australia 177(4): 200-204 (2002)
Cameron FJ and Werther GA. Adolescents with Diabetes Mellitus. In: Pediatric Diabetes. Kiuwer Academic Publishers (2002)
Charman X Cass H, Owen L, Wigram T, Slonims V, Weeks L, Wisbeach A and Reilly S. Regression in individuals with Rett syndrome. Brain and Development 24(5): 281-283 (2002)
Cameron FJ and Werther GA. The adolescent with type 1 Diabetes. In: Type 1 Diabetes: Etiology and Treatment (2002)
Chen Y, Waters E and Green J. Geospatial analysis of childhood pertussis in Victoria, 1993-1997. Australian and New Zealand Journal of Public Health 26: 456-461 (2002)
Campbell K, Waters E, O'Meara S and Summerbell C. Interventions for preventing obesity in children. Cochrane Review 4. Oxford (2002)
Cheung MMH, Davis AM, Weintraub RG, Cohen RJ and Wilkinson JL. T-wave alternans threshold late after repair of tetralogy of fallot. Journal of Cardiovascular Electrophysiology 13: 657-661 (2002)
Carapetis JR. Acute rheumatic fever. In: Cohen J and Powderly WG (eds). Infectious Diseases 2nd edition. Elsevier (in press) Carapetis JR. Acute rheumatic fever. In: Warrell DA, Cox TM, Firth JD and Benz EJ (eds). Oxford Textbook of Medicine 4th edition. Oxford University Press: Oxford (in press) Carapetis JR, Passmore J and O'Grady KA. Privacy legislation and research (Letter). Medical Journal of Australia 177: 523 (2002)
Christie DJF, Coleman DJ, Wan X, Jacobs MA and Carapetis JR. Childhood invasive pneumococcal disease in Tasmania, 1994-2000. Journal of Paediatrics and Child Health 38: 445-449 (2002) Clark C, Prior M and Kinsella G. The relationship between executive function abilities, adaptive behaviour, and academic achievement in children with externalising behaviour problems. Journal of Child Psychology and Psychiatry 43(6): 785-796 (2002)
Cardoso C, Leventer RJ, Dowling JJ, Ward HL, Chung J, Petras KS, Roseberry JA, Weiss AM, Das S, Martin CL, Pilz DT, Dobyns WB and Ledbetter DH. Clinical and molecular basis of classical lissencephaly: Mutations in the LI51 gene. Human Mutation 19: 4-15 (2002)
Clement Wilson S, Susman M, Bain S, Wohiferd M, Van Dyke DL, Daniel A, White B and Gardner RJM. Isochromosome 5p mosaicism at prenatal diagnosis: observations and outcomes in six cases at chorionic villus sampling and one at amniocentesis. Prenatal Diagnosis 22: 681-685 (2002)
Carlin JB and Doyle LW. Statistics for clinicians 7: sample size. Journal of Paediatrics and Child Health 38: 300-304 (2002)
Coffey C, Carlin JB, Degenhardt L, Lynskey M, Sand LA and Patton GC. Cannabis dependence in young adults: an Australian population study. Addiction 97: 187-194 (2002)
Catroppa C and Anderson V. Children's sustained attention skills two years post-TBI. Developmental Neuropsychology (in press)
Coghlan D, King J and Wake M. PEDS in the Australian daycare setting: parent and carer developmental concerns. Journal of Paediatrics and Child Health (in press)
Catroppa C and Anderson V. Recovery in memory function in the first year following TBI in children. Brain Injury 16(5): 369-384 (2002)
Condon JR, Carapetis JR, O'Grady KA, Counahan M, McGuinness K, Liddle H and Hurley T. A report on the feasibility study of the proposed NT pneumococcal vaccine trial. Cooperative Research Centre for Aboriginal and Tropical Health: Darwin (2002)
Chan AK, Berry L, Monagle P and Andrew M. Decreased concentrations of heparinoids are required to inhibit
Couper E, Jacobs R and Anderson V. Adaptive behaviour and moral reasoning in children with frontal lobe lesions. Brain Impairment (in press) Couzos S and Carapetis J. Acute rheumatic fever. Central Australian Rural Practitioners Association Standard Treatment Manual 4th edition. CARPA: Alice Springs (in press)
in
Couzos S and Carapetis J. Rheumatic Fever. In: Aboriginal primary health care: an evidence-based approach 2nd edition. Oxford University Press: Melbourne (in press)
D in ui 0£
Coveney D, Shaw G, Hutson JM and Renfree MB. Effect of an anti-androgen on testicular descent and inguinal closure in a marsupial, the tammar wallaby (Macropus eugenii). Reproduction 124: 865-874 (2002)
0£
D
o
Coveney D, Shaw G, Hutson JM and Renfree MB. The development of the gubernaculum and inguinal closure in the marsupial macropus eugenii. Journal of Anatomy 201: 239-256 (2002) Cover TC and Robins-Browne RM. Yersinia enterocolitica. In: Blaser MJ, Smith PD, Ravdin Jl, Greenberg HB and Guerrant RL (eds). Infections of the Gastrointestinal Tract 2nd edition. Raven Press: New York (2002) Craig JM, Wong LH, Lo AWI, Earle E and Choo KHA. Centromeric chromatin pliability and memory at a human neocentromere. EMBO Journal (in press) Crellin D and Johnston L. Who is responsible for pediatric triage decisions in Australian emergency departments: A description of the educational and experiential preparation of general and pediatric emergency nurses. Pediatric Emergency Care 18(5): 382-388 (2002) Crowther M, Berry L, Monagle P and Chan AK. Mechanisms responsible for the failure of protamine to inactive low-molecular weight heparin. British Journal of Haematology 116(1): 178-186 (2002) Cunliffe NA, Rogerson S, Dove W, Thindwa BD, Greensil J, Kirkwood CD, Broadhead RL and Hart CA. Detection and characterization of rotaviruses in hospitalized neonates in Blantyre, Malawi. Journal of Clinical Microbiology 40: 1534-1537 (2002) Curtis N, Carapetis J, Starr M and Buttery J. Infectious Diseases. In: Paxton G, Munro J and Marks M (eds). Paediatric Handbook 7th edition. Blackwell Science Asia: Carlton South (in press) 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 (in press) Danchin MH, Curtis N, Nolan TM and Carapetis JR. Treatment of sore throat in light of the Cochrane verdict:
ANNUAL REPORT 2002
71
is the jury still out? Medical Journal of Australia 177: 512-515 (2002) Davis PG, Thorpe K, Roberts R, Schmidt B, Doyle LW and Kirpalani H. Evaluating 'old' definitions for the 'new' bronchopulmonary dysplasia. Journal of Pediatrics 140(5): 555-560 (2002) De Crespigny L and Savulescu J. Is paternalism alive and well in obstetric ultrasound? Helping couples choose their children. Ultrasound Obstetrics and Gynaecology 20; 213-216(2002) De Luca C, Wood S, Anderson V, Buchanan J, Profitt X Mahoney K and Pantelis. Normative data from the CANTAB: development of executive function over the lifespan. Journal of Clinical and Experimental Neuropsychology (in press) De Paoli AG, Davis PG, Faber B and Morley CJ. Devices and pressure sources for administration of nasal continuous positive airway pressure (NCPAP) in preterm neonates (Cochrane Review). Cochrane Database System Review 4: 002977 (2002) De Silva MG, Elliott KS, Dahl HHM, Fitzpatrick EB, Delatycki MB, Lynch M, Williamson R, Efron D and Forrest S. 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 (in press) Debenham P and Mulholland K. Pertussis in Africa. In: Parry E, Mabey D (eds). Principles of Medicine in Africa 3rd edition. Cambridge University Press (in press) Degenhardt L, Lynskey M, Coffey C and Patton G. 'Diagnostic orphans' among young adult cannabis users: persons who report dependence symptoms but do not meet diagnostic criteria. Drug and Alcohol Dependence 67: 205-212 (2002)
Dennis S, Manji S, Carrington D, Scarcella D, Ashley DM, Smith PJ and Algar E. Expression and mutation analysis of the Wilms tumor 1 gene in neural tumors. International Journal of Cancer 97; 713-715 (2002)
Douglass JA, Aroni R, Goeman DP, Stewart K, Sawyer S, Thien F and Abramson MJ. A qualitative study of action plans for asthma. British Medical Journal 324(7344): 1003-1007 (2002)
Dewan PA. Congenital obstruction of the posterior urethra. Journal of Urology 167: 268 (2002)
Doyle J and Waters E. The Cochrane health promotion and public health field: expanding and promoting the evidence base. International Union of Health Promotion and Health Education 9: 96-97 (2002)
Dewan PA. Congenital urethral stricture. Journal of Urology 168: 1157 (2002) Dewan PA and Anderson PD. Percutaneously assisted cystoscopic incision of ureteroceles. British Journal of Urology 89(1): 139(2002)
Doyle LW, Davis P and Morley CJ. Effect of AAP statement regarding postnatal steroids on ongoing and future randomized controlled trials. Pediatrics 110(5): 1032-1033 (2002)
Dewan PA, Ehall H, Edwards GA, Middleton DJ and Terlet J. Plastic particle migration during intravenous infusion assisted by a peristaltic pump in an animal model. Pediatric Surgery International 18: 310-314 (2002)
Doyle LW, Faber B, Callanan C and Morley R. Blood pressure in late adolescence in very low birthweight. Pediatrics (in press)
Dewan PA, Elsworthy E, Mathew M, Poki 0, Khaw SL, Roberts K and Catto-Smith AG. Bowel imbrication in the management of anorectal anomalies. Pediatric Surgery International (in press) Dewan PA and Moon DA. Temporary drainage in the management of congenital obstructive posterior urethral membrane. Progress in Pediatric Urology 4: 138-143 (2002) Dewan PA, Moon DA and Anderson K. The presence of the egg-shell sign in obstructive uropathy. Urology 59 (2): 287-289 (2002) 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 (in press)
Duffy CM, Lam PY, Ditchfield MR, Allen R and Graham HK. Chronic recurrent multifocal osteomyelitis: Review of orthopaedic complications at maturity. Journal of Pediatric Orthopaedics 22: 501-505 (2002) Duffy CM, Taylor FN, Coleman L, Graham HK and Nattrass GR. Magnetic resonance imaging evaluation of surgical management in developmental dysplasia of the hip in childhood. Journal of Pediatric Orthopaedics 22: 92-100 (2002) Duke X Anne J Blaschke, Sioni Sialis, Joshua L Bonkowsky. Hypoxaemia in ALRI and non-ALRI illnesses in neonates and children in developing countries. Archives of Disease in Childhood 86: 108-112 (2002) Duke T. Hypoxaemia in developing countries. Archives of Disease in Childhood eLetters. http://adc.bmjjournals.eom/cgi/eletters/archdischild:86/2/10 8#377 (2002)
Delatycki MB. Commentary on Gebhardt: Sperm donor suffers years later from inherited disease. Journal of Medical Ethics 28; 213-214 (2002)
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 of the National Cancer Institute 95 (2003)
Delatycki MB. Commentary on Spriggs: Genetically selected baby free of inherited predisposition to earlyonset Alzheimer disease. Journal of Medical Ethics (2002)
Diwakala S, Clark R and Palombo EA. Expanding distribution of human serotype G6 rotaviruses in Australia. Microbiology Immunology 46: 499-502 (2002)
Delatycki MB, Allen K and Williamson R. Insurance agreement to facilitate genetic testing. The Lancet 359: 1433 (2002)
Dobson F, Boyd RN, Parrott J, Nattrass GR and Graham HK. Hip surveillance in children with cerebral palsy: Impact on the surgical management of spastic hip disease. Journal of Bone and Joint Surgery (Br) 84-B: 720-726 (2002)
Duke X Mokeia D, Frank D, Paulo X Michael A, Mgone J and Kurubi J. A randomised trial of moderate fluid restriction using breast milk versus intravenous fluid at maintenance volumes for the management of meningitis in children. Annals of Tropical Paediatrics 22: 145-157 (2002)
Doughty S, Sloan J, Bennett-Wood V, Robertson M, Robins-Browne RM and Hartland EL. Identification of a novel fimbrial gene cluster related to long polar fimbriae in locus of enterocyte effacement-negative strains of enterohemorrhagic Escherichia coli. Infection and Immunity 70: 6761-6769(2002)
Duke X Poka H, Michael A, Mgone J and Wal T. A randomised trial of chloramphenicol versus benzylpenicillin and gentamicin in the treatment of very severe pneumonia in children in Papua New Guinea. Lancet 359: 474-480 (2002)
Delatycki MB, Efron D, De Silva MG, Langbein A, Slaghuis W, Dahl HHM and Forrest SM. A developmentalbehavioural phenotype co-segregating with a pericentric inversion of chromosome 3. Journal of Medical Genetics (in press)
72 ^ ANNUAL REPORT 2002
Duke T. International child health care: a practical manual for hospitals worldwide. Bulletin of the World Health Organization 80: 254-5 (2002) Duke X Michael A, Mgone J and Frank D. Eetiology of child mortality in Goroka, Papua New Guinea: a prospective two-year study. Bulletin of the World Health Organization 80: 16-25 (2002)
Duke X Weber M, Bailey R. Improving the quality of care for children. Indian Pediatrics 39: 523-528 (2002) Dwyer X Blizzard L and Morley R. Twins and the fetal origins hypothesis: within-pair analyses. Lancet 359: 22052206 (2002) Dwyer T, Blizzard L, Venn A, Satankovich JM, Ponsonby AL and Morley R. Syndrome X in 8-yr-old Australian children; stronger associations with current body fatness than with infant size or growth. International Journal of Obesity 26: 1301-1309(2002) Efron D and Kilpatrick N. Attention deficit and hyperactivity disorder: a review and guide for dental professionals. Journal of Oral Health and Disability 3: 7-12 (2002) Elliot J, Prior M, Merrigan C and Ballinger K. Evaluation of a community intervention programme for preschool behaviour problems. Journal of Paediatrics and Child Health 38:41-50(2002) Elliott KS, Anney RJL, Fitzpatrick EB, Williamson R and Forrest S. Conservation of CNS1 and exclusion of its role in atopic eczema susceptibility. International Journal of Infectious Diseases 109: 176-178 (2002) Everitt I and Barnett P. Comparisons of two benzodiazepines used for sedation of children undergoing suturing of a laceration in an emergency department. Pediatric Emergency Care 18: 72-74 (2002) Everitt I, Younge P and Barnett P. Paediatric sedation in emergency departments: What is our practice? Emergency Medicine 14: 62-66(2002) Fewtrell MS, Morley R, Abbott RA, Singhal A, Isaacs EB, Stephenson X MacFadyen UM and Lucas A. Double-blind randomised trial of long-chain polyunsaturated fatty acid supplementation in formula fed to preterm infants. Pediatrics 110: 73-82 (2002) Fitzgerald J, Ting ST and Bateman JF. WARP is a new member of the von Willebrand factor A-domain superfamily of extracellular matrix proteins. FEBS Letters 517:61-66(2002) Flanagan S, Robertson SP, Savarirayan R, Roscioli X Masel J, Hayes M, Hyland VJ and Glass lA. A novel skeletal dysplasia distinct from Thanatophoric dysplasia resulting from a R248C missense mutation in the FGFR3 gene. American Journal of Medical Genetics (in press) Fogarty RD, McKean SC, White PJ, Atley LM, Werther GA and Wraight CJ. Sequence dependence of C5-propynyldU,dC-phosphorothioate oligonucleotide inhibition of the human IGF-I receptor: mRNA, protein and cell growth. Antisense and Nucleic Acid Drug Development 12; 369-377 (2002)
Foulkes WD, Thiffault I, Gruber SB, Horwitz M, Hamel N, Lee C, Shia J, Markowitz A, Figer A, Friedman E, Farber D, Greenwood CM, Bonner JD, Nafa K, Walsh T, Marcus V, Tomsho L, Gebert J, Macrae FA, Gaff CL, Paillerets BB, Gregersen PK, Weitzel JN, Gordon PH, MacNamara E, King MC, Hampel H, De La Chapelle A, Boyd J, Offit K, Rennert G, Chong G and Ellis NA. The founder mutation MSH2*1906G—>C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. American Journal of Human Genetics 71: 1395-1412 (2002) Fowlie PW and Davis PG. Prophylactic intravenous indomethacin for preventing mortality and morbidity in preterm infants. Cochrane Database of Systematic Reviews 3(CD000174)(2002) Fraser J, Wraith JE and Delatycki MB. Management of sleep disturbance in Mucopolysaccharidosis Type III (Sanfilippo syndrome) - a survey of managing clinicians. Clinical Genetics 62; 418-421 (2002) Frawley GP, Dargaville PA, Mitchell PJ, Tress BM and Loughnan P. Clinical course and medical management of neonates with severe cardiac failure related to Vein of Galen malformation. Archives of Disease in Childhood Fetal and Neonatal edition 87: 144-149 (2002) Fullerton J, Paprocki P, Foote SJ, Mackey DA, Williamson R and Forrest S. Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia. Human Genetics 110(5): 462-470(2002) Gardner RJM, Savarirayan R, Coieman LT, Suthers GK and Sheffield U. Response to ten Berg and Lindhout. Clinical Dysmorphology 11: 229-230 (2002) Garland S, Chuileannain F, Satzke C and Robins-Browne RM. Mechanisms, organisms and markers of infection in pregnancy. Journal of Reproductive Immunology 57: 169-183 (2002) 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 (in press) Glenny AM, Hooper L, Shaw WC, Reilly S and Reid J. Feeding interventions for growth and development in infants with cleft lip, cleft palate or cleft lip and palate (Protocol for a Cochrane Review). In; The Cochrane Library 3. Oxford: Update Software (2002) Goeman DP, Aroni RA, Stewart K, Sawyer SM, Thien FCK, Abramson MJ and Douglass JA. Patients' views of the burden of asthma: a qualitative study. Medical Journal of Australia 177: 259-295 (2002)
Gooding TM, Johnson PDR, Smith M, Kemp AS and Robins-Browne RM. Cytokine profiles of patients infected with Mycobacterium ulcerans and unaffected household contacts. Infection and Immunity 70: 5562-5567 (2002)
Hardikar W. Ascites and Encephalopathy in chronic liver disease. Indian Journal of Paediatrics (in press) Hardikar W. Hepatitis C in childhood. Journal of Gastroenterology and Hepatology (in press)
Gooding TM, Kemp AS, Robins-Browne RM, Smith M and Johnson PDR. Acquired Thl-lymphocyte energy following infection with Mycobacterium ulcerans. Clinical Infectious Diseases (in press)
Hardikar W, Smith AL, Angos P, Gleeson A, Wilson G and Jones R. Paediatric liver transplantation in Melbourne: the first 50 patients. Pediatric Surgery International (in press)
Gordon E, South M, McDougall PN and Dargaville PA. The blood aspiration syndrome as a cause of respiratory distress in the newborn. Journal of Pediatrics (in press)
Harland L, Crombie R, Anson S, DeBoer J, loannou PA and Antoniou M. Transcriptional regulation of the human TATA binding protein gene. Genomics 79: 479-482 (2002)
Gorman JJ, Wallis TP and Pitt JJ. Protein disulfide bond determination by mass spectrometry. Mass Spectrom Rev 21: 183-216 (2002)
Harrison D. Does a sweet tasting sugar solution reduce pain during blood tests in sick babies? Traffic 1: 177-190 (2002)
Graham HK. Painful hip dislocation in cerebral palsy. Invited commentary. The Lancet 359: 907-908 (2002)
Harrison D, Johnston L and Loughnan P. Research in a vulnerable population: Issues of obtaining informed parental consent. Neonatal, Paediatric and Child Health Nursing (in press)
Graham HK. Sonographic healing stages of achilles tendon after tenomuscular lengthening in children with cerebral palsy (Letter). Journal of Pediatric Orthopaedics 22: 556 (2002) Greaves R, Kanumakala S, Read A and Zacharin M. Genital abnormalities mimicking congenital adrenal hyperplasia in premature infants. Journal of Paediatrics and Child Health (in press) Greenaway A and Zacharin M. Vitamin D in chronically ill children. Journal of Paediatrics and Child Health (in press) Griffin DD, Nakagomi T, Hoshino Y, Nakagomi 0, Kirkwood CD, Parasher UD, Glass Rl and Gentsch JR. Characterisation of nontypeable rotavirus strains from the United States: identification of a new rotavirus reassortant (P2A[61,G12) and rare P3191 strains related to bovine rotaviruses. Virology 294: 256-269 (2002) Gururangan S, Cavazos CM, Ashley D, Herndon II JE, Bruggers CS, Moghrabi A, Scarcella DL, Watral M, TourtUhlig S, Reardon D, Friedman Henry S. Phase II study of Carboplatin in children with progressive low-grade gliomas. Journal of Clinical Oncology 20(13): 2951-2958 (2002) Haby MM, Powell CVE, Oberklaid F, Waters E and Robertson CF. Asthma in children: Gaps between current practice and best practice. Journal of Paediatrics and Child Health 38: 284-289 (2002) Hall CM, Savarirayan R and International Nomenclature GRP. International nosology and classification of constitutional disorders of bone. American Journal of Medical Genetics 113: 65-77 (2002) Hall RK, Maniere MC, Palamara J and Hemmerle J. Odontoblast dysfunction in osteogenesis imperfecta: an LM, SEM, and ultrastructural study. Connective Tissue Research 43: 401-405 (2002)
Harrison D, Johnston L, Loughnan P and Evans C. Bedside assessment of heel lance pain in the hospitalized infant. Journal of Obstetric, Gynaecologic and Neonatal Nursing 31:411-417(2002) Hasthorpe S. Clonogenic culture of normal spermatogonia: In vitro regulation of postnatal germ cell proliferation. Biology of Reproduction 10: 1095 (2002) Heine RG and Bines JE. New approaches to parenteral nutrition in infants and children. Journal of Paediatrics and Child Health 38: 433-437 (2002) Heine RG, Cameron DJS, Chow CW, Hill DJ and CattoSmith AG. Esophagitis in distressed infants: poor diagnostic agreement between esophageal pH monitoring and histopathologic findings. Journal of Pediatrics 140: 14-19(2002) Heine RG, Elsayed S, Hosking CS and Hill DJ. Cow's milk allergy in infancy. Current Opinion in Allergy and Clinical Irnmunology 2: 217-225 (2002) Herman GE, Kelley Rl, Pureza V, Smith D, Kopacz K, Pitt J, Sutphen R, Sheffield U and Metzenberg MA. Characterisation of mutations in 22 females with x-linked dominant chondroplasia punctata (Happle syndrome). Genetics in Medicine 4(6): 434-438 (2002) Hiscock H and Oberklaid F. Life events of normal children. In: Robinson M and Roberton D (eds). Practical Paediatrics edition 5. Harcourt Health Sciences: London. 130-134 (2002) Hiscock H and Wake M. Randomised controlled trial of behavioural infant sleep intervention to improve infant sleep and maternal mood. British Medical Journal 324(7345): 1062-1065 (2002)
Ho JJ, Henderson-Smart DJ and Davis PG. Early versus delayed initiation of continuous distending pressure for respiratory distress syndrome in preterm infants. Cochrane Database of Systematic Reviews 2 (CD002975) (2002) Ho JJ, Subrabramaniam R Henderson-Smart DJ and Davis PG. Continuous distending pressure for respiratory distress syndrome in preterm infants. Cochrane Database of Systematic Reviews 2 (CD002271) (2002)
t/)
Holloway AC, Qian H, Pipilo L, Ziogas J, Karnik S, Southwell BR, Lew MJ and Thomas WG. Sidechain substitutions within Angiotensin II reveal different requirements. Molecular Pharmacology 61: 768-777 (2002)
D t/) 111
Qi 0£
Horak E, Glinsky A, Chow CW, Waters K and Sawyer SM. Multiple cavitating pulmonary nodules and clubbing in a 12 year old girl. Pediatric Pulmonology 34(2): 147-149 (2002)
D
o
Hrabovszky Z and Dewan PA. Revision anorectoplasty in the management of anorectal anomalies. Pediatric Surgery International 4: 269-272 (2002) Hrabovszky Z, Di Pilla N, Yap T, Farmer PJ, Hutson JM and Carlin JB. The role of the gubernacular bulb in cremaster muscle development of the rat. Anatomical Record 267: 159-165 (2002) Hrabovszky Z and Hutson JM. Androgen imprinting of the brain in animal models and humans with intersex disorders. Journal of Urology 168: 2142-2148 (2002) Hrabovszky Z and Hutson JM. Surgical treatment of intersex anomalies: a review. Surgery 131: 92-104 (2002) Hughes JC, Hope T, Savulescu J and Ziebland S. Carers, ethics and dementia: a survey and review of the literature. International Journal of Geriatric Psychiatry 17: 35-40 (2002) Hunt RW, Loughnan R Fink AM, Voipe JJ and Inder TE. Magnetic resonance demonstration in the newborn of generalized cerebral venous dilation with spontaneous resolution. European Journal of Paediatric Neurology 6: 289-292 (2002) Hutson JM. 35th Annual meeting of PAPS (editorial). Journal of Paediatric Surgery 36; 1738 (2002) Imaji R and Dewan PA. Calyx to parenchymal ratio in pelvi-ureteric junction obstruction. British Journal of Urology 89(1): 73-77 (2002) Imaji R and Dewan PA. Congenital posterior urethral obstruction: redo fulguration. Pediatric Surgery International 18; 444-446 (2002) loannou PA. Free Consanguinity Testing for All. Nature 419: 247-248 (2002)
ANNUAL REPORT 2002
73
loannou PA, Vadolas J and Sarsero JR From BACs to drugs. Today's Life Sciences 14: 46-48 (2002)
missegregation and apoptosis during mouse embryogenesis. Chromosome Research (in press)
rat gubernacular growth. Molecular Human Reproduction 8(10): 900-905 (2002)
Jabbour AM, Ekert PG, Coulson EJ, Knight MJ, Ashley DM and Hawkins CJ. The p35 relative, p49, inhibits mammalian and Drosophila caspases including DRONC and protects against apoptosis. Cell Death and Differentiation 9(12): 1311-1320 (2002)
Kanumakala S, Boneh A and Zacharin M. Effect of pamidronate treatment on osteoporosis in children with Menkes disease. Journal of Inherited Metabolic Disease (in press)
Kukuruzovic R, Robins-Browne RM, Anstey NM and Brewster DR. Enteric pathogens, intestinal permeability and nitric oxide production in acute gastroenteritis. Pediatric Infectious Diseases 21: 730-739 (2002)
Kanumakala S, Boneh A and Zacharin M. Pamidronate treatment improves bone mineral density in children with ■ Menkes disease. Journal of Inherited Metabolic Disease 25:391-398 (2002)
Lam P, Hiscock H and Wake M. Outcome of infant sleep problems: a longitudinal study of sleep, behavior and maternal wellbeing. Pediatrics (in press)
Kanumakala S and Warne GL. Classical 21 hydroxylase deficiency. Atlas of Endocrinology. Academic Press (in press)
Lamande SR, Morgelin M, Selan C, Jobsis GJ, Baas F and Bateman JF. Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. Journal of Biological Chemistry 277: 1949-1956 (2002)
Jacobs R and Anderson V. Planning and problem solving skills following focal frontal brain lesions in childhood: Analysis using the Tower of London. Child Neuropsychology 8(2): 93-106 (2002) Jenkins MA, Baglietto L, Dite G5, Jolley DJ, Southey MC, Whitty J, Mead U, St John DJB, Macrae FA, Bishop DT, Venter DJ, Giles GG and Hopper JL. After hMSH2 and hMLHl - what next? Analysis of three-generational population-based, early-onset colorectal cancer families. International Journal of Cancer 102: 166-171 (2002) Johnson A and Copnell B. Benefits and barriers for registered nurses undertaking postgraduate diplomas in paediatric nursing. Nurse Education Today 22: 118-127 (2002) Johnston L. An evidential base for nursing practice: What is it and how to do it. The Japanese Journal of Nursing Research 35: 3-9 (2002)
Kanumakala 5, Warne GL, Stokes KB, Chan YF and Grover S. Massive ovarian edema causing early puberty. Journal of Paediatric Endocrinology and Metabolism 15: 861-864 (2002) Kanumakala S, Warne GL and Zacharin M. Hypopituitarism after cranial irradiation. Journal of Paediatric Endocrinology and Metabolism (in press)
Johnston L. Evidence in Practice: What is Evidence Based Nursing? Evidence Based Nursing - Japan (in press)
Kapsa RM, Quigley AF, Vadolas J, Steeper K, loannou PA, Byrne E and Kornberg AJ. Targeted gene correction in the mdx mouse using short DNA fragments: towards application with bone marrow derived cells for autologous remodelling of dystrophic muscle. Gene Therapy 9: 695-699 (2002)
Johnston L. Forum. The Japanese Journal of Nursing Research 35: 49-54 (2002)
Kemp AS. Do allergens play a role in early childhood asthma? Medical Journal of Australia 177: 52-54 (2002)
Johnston L. Getting the evidence into practice. The Japanese Journal of Nursing Research 35: 43-47 (2002)
Kemp A, Balloch A, Simpson C and Zacharin M. Coeliac screening tests in Australian diabetic children. Journal of Paediatrics and Child Health (in press)
Johnston L. Implementing EBN in prartice: How to make good use of evidence in daily clinical practice. EB Nursing (Japan) (in press) Johnston L. Research critique. The Japanese Journal of Nursing Research 35: 21-26 (2002) Jorm A, Prior M, Sanson A, Smart D, Zhang Y, Tan S and Easteal S. Lack of association of a single-nucleotide polymorphism of the U-Opiod receptor gene with anxietyrelated traits: Results from a cross-sectional study of adults and a longitudinal study of children. American Journal of Medical Genetics (Neuropsychiatric Genetics) 114: 659-664 (2002) Kahler SG and Fahey MC. Metabolic disorders and mental retardation. American Journal of Medical Genetics (in press) Kalitsis P, Fowler KJ, Earle E, Griffiths B, Howman E, Newson AJ and Choo KHA. Partially functional Cenpa-GFP fusion protein causes increased chromosome
74 3 annual report 2002
Kermond S, Fink M, Graham HK, Carlin JB and Burnett P. A randomized clinical trial: Should the child with transient synovitis of the hip be treated with nonsteroidal anti-inflammatory drugs? Annals of Emergency Medicine 40: 294-299 (2002) Kettler U, Sawyer SM, Winefield HR and Greville HW. Determinants of adherence in adults with cystic fibrosis. Thorax 57: 459-464 (2002) Kirkwood CD, Bogdanovic-Sakran N, Clark R, Masendycz PJ, Bishop RF and Barnes GL. Report of the Australian Rotavirus Surveillance program 2001-2002. Communicable Diseases Intelligence 26: 537-540 (2002) Klockars T, Perheentuba T and Dahl HHM. In silico analyses of the mouse inner ear gene pool. Journal of the Association for Research in Otolaryngology (in press) Kubota Y, Temelcos C, Bathgate RA, Smith KJ and Hutson JM. The role of insulin 3, testosterone, MIS and relaxin in
Laumonnier F, Ronce N, Hamel B, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Yntema H, Kalscheuer V, Fryns JP Chelly J, Moraine C and Briault S. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. American Journal of Human Genetics 71: 1450-1455 (2002) Lewis S, Hutchison W, Thyagarajan D and Dahl HHM. Clinical and molecular features of adPEO due to mutations in the Twinkle gene. Journal of the Neurological Sciences 201:39-44(2002) Li L, Moore P Petrovic V, White SM, Northrop E, loannou PA, McKinlay Gardner RJ and Slater HR. Identification of a Haplosufficient 3.6-Mb Region in Human Chromosome 11q14.3—>q21. Cytogenetics and Genome Research 97: 158-162 (2002) Lobb EA, Butow PN, Meiser B, Barratt A, Gaff C, Young MA, Kirk J, Suthers GK and Tucker K. Tailoring communication in consultations with women from high risk breast cancer families. British Journal of Cancer 87: 502-508 (2002) Lower K, Turner G, Kerr BJ, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme E, White S, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, Van Ravenswaay CMA, De Vries B, Cox B, Grompe M, Ross S, Thomas P Mulley JC and Gicz J. Mutations in a novel PHD finger gene, PHF6 cause Borjeson-Forssman-Lehmann syndrome. Nature Genetics 32: 661-665 (2002) Lynch M, Cameron TL, Knight MA, Kwok TY, Thomas P, Forrest SM, Giersch AB, Briggs RJ and Pyman BC. Structural and mutational analysis of antiquitin as a candidate gene for Meniere disease. American Journal of Medical Genetics 110(4): 397-399 (2002) Marcin J, Glaser N, Barnett P, McCaslin I and Nelson D. Factors associated with adverse outcomes in children with diabetic ketoacidosis-related cerebral edema. Journal of Pediatrics 141(6): 793-797 (2002)
Mari M, Castiello U, Marks D, Marraffa C, and Prior M. The reach-to-grasp movement in children with autism spertrum disorder. Philosophical transactions: biological sciences. The Royal Society 'Autism, mind and brain' (2002) Massie RJH. Exercise induced asthma in children. Paediatric Drugs 4: 267-278 (2002) Mathai J, Anderson P and Bourne A. The Strengths and Difficulties Questionnaire (SDQ) as a screening measure prior to admission to a Child and Adolescent Mental Health Service (CAMHS). Australian e-Journal for the Advancement of Mental Health (AeJAMH) 1(3): 1-12 (2002) McCalman J and Morley R. Mothers' health and babies' weights: the biology of poverty at the Melbourne Lying-in Hospital, 1857-1883. Social History of Medicine (in press) McClive PJ and Sinclair AH. Type II and IX collagen transcript isoforms are expressed during mouse testis development DOLI 0.1095/biolreprod. 102.008235. Biology of Reproduction (2002) McDonnell C, Coleman L and Zacharin M. A 3 year prospective study to assess uterine growth in girls with Turner Syndrome by pelvic ultrasound. Journal of Clinical Endocrinology (in press) McDowell B, Cosgrove A and Baker R. Estimating mechanical cost in subjects with myelomeningocele. Gait and Posture 15: 25-31 (2002) McGee R, Prior M, Williams S, Sanson A and Smart D. The long term significance of teacher-rated hyperactivity and reading ability in childhood: findings from two longitudinal studies. Journal of Child Psychology and Psychiatry 43(7): 1004-1017 (2002) McVernon J, MacLennon J, Buttery J, Oster P and Danzig L. Safety and immunogenicity of meningococcus serogroup C conjugate vaccine administered as a primary or booster vaccination to healthy four-year-old children. Pediatric Infectious Diseases Journal 21: 747-753 (2002) Meiser B and Halliday J. What is the impact of genetic counselling in women at increased risk of developing hereditary breast cancer? A meta-analytic review. Social Science and Medicine 54: 1463-1470 (2002) Merei JM, Hasthorpe S and Hutson JM. In vitro analysis of esophageal atresia using a whole-embryo culture system. European Journal of Pediatric Surgery 12: 3-7 (2002) Metcalfe S, Hurworth R, Newstead J and Robins R. Needs assessment study of genetics education for general praaitioners in Australia. Genetics in Medicine 4 (2002) Michie S, Collins V, Halliday J and Marteau T. Likelihood of attending bowel screening after a negative genetic test result: the possible influence of health professionals. Genetic Testing 6: 307-311 (2002)
Michie S, Weinman J, Miller J, Collins V, Hailiday J and Marteau T. Predictive genetic testing: high risk expectations in the face of low risk information. Journal of Behavioural Medicine 25: 33-50 (2002)
Morrish BC and Rumsby MG. The 5' untranslated region of protein kinase Cdelta directs translation by an internal ribosome entry segment that is most active in densely growing cells and during apoptosis. Molecular and Cellular Biology 22: 6089-6099 (2002)
Minas H and Sawyer SM. The mental health of immigrant and refugee children and adolescents: a case of public policy confusion. Medical Journal of Australia 177(8): 404-405 (2002)
Morrish BC and Sinclair AH. Vertebrate sex determination: many means to an end. Reproduction 124 (4): 447-457 (2002)
Mitchell LA, Thomas PQ, Zacharin MR and Scheffer IE. Ectopic posterior pituitary and periventricular heterotopia: cerebral malformations with the same underlying mechanism. American Journal of Neuroradiology 23: 1475-1481 (2002)
Morrone A, Malvagia 5, Donati MA, Funghini S, Ciani F, Pela I, Boneh A, Peters H, Pasquini E and Zammarchi E. Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency. American Journal of Medical Genetics 111:10-18 (2002)
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 6th edition (in press)
Mount RH, Charman T, Hastings RP, Reilly S and Cass H. The Rett Syndrome Behaviour Questionnaire (RSBQ): Refining the behavioural phenotype of Rett syndrome. Journal of Child Psychology and Psychiatry 43(8): 10991110(2002)
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 6th edition (in press) Monagle P, Andrew M and Michelson A. Haemorrhage, thrombosis and antithrombotic therapy in children. In: LoscaIzo J and Schafer A (eds). Thrombosis and Hemorrhage 3rd edition. Lippincott Williams and Wilkins: Philadelphia (2002) Monagle P, Chan AK, Albisetti M, Vegh P, Mitchell L and Andrew M. The fibrinolytic system in adolescents: response to venous occlusion stress tests. Pediatric Research (in press)
Mount RH, Hastings RP, Reilly S, Cass H and Charman T. Behaviour problems in adult women with Rett syndrome. Journal of Intellectual Disability Research 46(8): 619-624 (2002) Mulholland EK. Global burden of acute respiratory infections in children - implications for interventions. Pediatric Pulmonology (in press) Mulholland EK and Bjorvartn B. Introduction of new vaccines in the health care system. In: Bloom B and Lambert PH (eds). The Vaccine Book. Academic Press (2002)
Newstead J, Delatycki MB and Aitken MA. Haemochromatosis and family testing. What should a GP do? Australian Famiiy Physician 31: 553-557 (2002) Nisbet D, Robinson H, Hailiday J and de Crespigny L Australian Society of Uitrasound in Medicine (A5UM) Policy Statement on normal ultrasonic fetal measurements. Australian and New Zealand Journal of Obstetrics and Gynaecoiogy 42: 101-103 (2002) Nixon MN, Armstrong DS, Carlin JB, Olinsky A, Robertson CF and Grimwood K. Eariy airway infection, inflammation and lung function in cystic fibrosis. Archives of Disease in Childhood 87: 306-311 (2002) Nixon GM, Glazner J, Martin J and Sawyer SM. Urinary incontinence in female adolescents with cystic fibrosis. Pediatrics 110(22) (2002) Northam E. Diabetes and learning. Medicine Today 3: 8 (2002) Oakley EA and Barnett PU. Is acid base determination an accurate predictor of plyoric stenosis? Journal of Paediatrics and Child Health 36(6): 587-589 (2002) Oberklaid F. Coordinated, evidence-based and sustainable community interventions for young people and their families: are we expecting the impossible? In: Zuckerman B, Lieberman A and Fox N (eds). Emotional Regulation and Developmental Health: Infancy and Early Childhood. Johnson and Johnson Pediatric Institute: New Jersey (2002) Oberklaid F. In: Early Childhood Health: An Australian Guide. Pademelon Press: Sydney (2002)
Monagle P and Karl T. Thromboembolic problems after Fontan operation. Pediatric Cardiac Surgery Annual Jan 5: 36-47 (2002)
Mulholland K and Duke T. Haemophilus influenzae infections. In: Parry E and Mabey D (eds). Principles of Medicine in Africa 3rd edition. Cambridge University Press (in press)
Monagle P, Robb B, Driscoll S and Bowes G. Organ retention following paediatric and perinatal autopsy: Where to from here? Journal of Paediatrics and Child Health 38(4): 405-408 (2002)
Munir V, Barnett P and South M. Does the use of volumetric bladder ultrasound improve the success rate of suprapubic aspiration of urine? Pediatric Emergency Care 18(5): 346-349(2002)
Oberklaid F. Paediatric telephone advice: a major gap in quality service delivery. Journal of Paediatrics and Child Health 38: 6-7 (2002)
Moon DA, Imaji R and Dewan PA. The anatomy of posterior urethral obstruction. Progress in Pediatric Urology 4: 138-143 (2002)
Muthen B, Brown CH, Masyn K, Jo B, Khoo ST, Wang CP, Kellam SG, Carlin JB and Liao J. General growth mixture modeling for randomized preventive interventions. Biostatistics 3: 459-475 (2002)
Morley R and Dwyer T. Exposures in early life and later health and development. Nestle Nutrition Workshop Series 48. In: Public health issues in infant and child nutrition. Vevey: Switzerland (2002)
Newall F Barnes C, Ignjatovic V and Monagle P. Heparin induced thrombocytopenia in children. Journal of Paediatrics and Child Health (in press)
O'Brien KL, Nohynek H and the World Health Organization Pneumococcal Vaccine Trials Carriage Working Group. Report from a World Health Organization Working Group: Standard method for detecting upper respiratory carriage of streptococcus pneumoniae. Pediatric Infectious Disease Journal (in press)
Morley R, Owens J, Blair E and Dwyer T. Is birthweight a good marker for gestational exposures that increase the risk of adult disease? Paediatric and Perinatal Epidemiology 16: 194-199 (2002)
Newgreen DF and Young HM. The enteric nervous system: development and developmental disturbances - part 1. Pediatric and Developmental Pathology 5: 224-247 (2002) Newgreen DF and Young HM. The enteric nen/ous system: development and developmental disturbances - part 2. Pediatric Developmental Pathology 5: 329-349 (2002)
Oberklaid F. Investing in the early years: challenges and opportunities for Victoria. Health of Victorians. The Chief Health Officer's Bulletin 2(1): 5-7 (2002)
O'Donnell C, Stone R and Morley CJ. Unlicensed and offlabel drug use in an Australian neonatal intensive care unit. Pediatrics 110(5): 52 (2002) O'Neill C, Lowe G, Davey J and Spicer M. The Asthma Linking Project: Community based education and support for asthma in a culturally and linguistically diverse population. Health Promotion Journal of Australia 13(3): 220-225 (2002)
I
O'Reilly LA, Ekert PG, Harvey N, Marsden V, Cullen L, Vaux DL, Hacker G, Magnusson C, Pakusch M, Cecconi F, Kuida K, Strasser A, Huang DCS and Kumar S. Caspase-2 is not required for thymocyte or neuronal apoptosis even though cleavage of caspase-2 is dependent on both Apaf-1 and caspase-9. Cell Death and Differentiation 9: 832-841 (2002) O'Sullivan M and Zacharin M. Intramedullary rodding and bisphosphonate treatment of polyostotic fibrous dysplasia associated with the McCune-Albright syndrome. Journal of Paediatric Orthopedics 22(2): 60-255 (2002)
CO
3 CO 111
Parrott J, Boyd RN, Dobson F, Lancaster A, Love S, Oates J, Wolfe R, Nattrass GR and Graham HK. Hip displacement in spastic cerebral palsy: Repeatability of radiologic measurement. Journal of Pediatric Orthoapedics 22: 660-667 (2002)
ce 3
o
Patton GC, Coffey C, Carlin JB, Degenhardt L, Lynskey M and Hall W. Cannabis use and mental health in young people: cohort study. British Medical Journal 325: 1195-1198 (2002) Patton G, Olsson CA and Toumbourou JW. Prevention and mental health promotion in adolescents. In: Rowling L, Martin G and Walker L (eds). Mental Health Promotion Concepts and Practice - Young People. McGraw Hill Publishers: Australia (2002) Patton GC, Sand LA and Sawyer SM. Adolescent medicine. Medical Journal of Australia 176: 3(2002) Penington EC and Hutson JM. The cloacal plate - the missing link in anorectal and urogenital development. British Journal of Urology International 89: 726-732 (2002) Penington EC and Hutson JM. The urethral plate - does it grow into the genital tubercle or with it? British Journal of Urology International 89: 733-739 (2002) Peters H. A unique mouse model for succinic semialdehyde dehydrogenase deficiency with implications for gamma hydroxybutyrate intoxication. Pharmacogenomics Journal 2(1): 3-4 (2002) Peters H and Kahler SG. Inherited metabolic diseases with dysmorphic features. In: Rudolph's Pediatrics 21 st edition. McGraw-Hill: Philadelphia (2002) Peters H, Nefedov M, Lee LW, Abdenur JE, Chamoles NA, Kahler SG and loannou PA. Molecular studies in mutasedeficient (MUT) methylmalonic aciduria: Identification of five novel mutations. Human Mutation 20: 406 (2002) Phavichitr N, Cameron DJS and Catto-Smith AG. Increasing incidence of Crohn's disease in Victorian children. Journal of Gastroenterology and Hepatology (in press)
ANNUAL REPORT 2002
75
J
Phavichitr N and Catto-Smith AG. Antibacterials: what role in acute gastroenteritis? Pediatric Drugs (in press) Pirpiris M, Wilkinson AJ, Rodda J, Nguyen T and Baker R. Walking speed in children and young adults with neuromuscular disease: A comparison between two assessment methods. Journal of Pediatric Orthopaedics (in press) Pitt JJ, Carpenter K, Wiicken B and Boneh A. 3hydroxyglutarate excretion is increased in ketotic patients: Implications for glutaryl-CoA dehydrogenase deficiency testing. Journal of Inherited Metabolic Disease 25: 83-88 (2002) Pitt JJ, Eggington M and Kahler SG. Comprehensive screening of urine samples for inborn errors of metabolism by electrospray tandem mass spectrometry. Clinical Chemistry 48: 1970-1980 (2002) Prior M. Investing in our children: developing a research agenda. Academy of the Social Sciences of Australia (2002) Radcliff FJ, Caruso DA, Koina C, Riordan MJ, Roberts AW, Tang MLK, Baum CM, Woulfe SL and Ashley DM. Mobilization of dendritic cells in cancer patients treated with granulocyte colony-stimulating factor and chemotherapy. British Journal of Haematology 119: 204-211 (2002) Raffaele 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 (in press)
Rerksuppaphol S and Barnes GL. Guidelines for evaluation and treatment of gastroesophageal reflux in infants and children: Recommendations of the North American society for Pediatric gastroenterology and Nutrition. Journal of Pediatric Gastroenterology and Nutrition 35: 583 (2002) Rey JM, Sawyer MG, Raphael B, Patton GC and Lynskey M. Mental health of teenagers who use cannabis. British Journal of Psychiatry 180: 216-221 (2002) Rice JE, Shipp AT, Carlin JB, Vidmar SI and Weintraub RG. Renal function in pediatric heart transplant recipients is not influenced by the usual late reduction in Cyclosporine dose. Journal of Heart and Lung Transplantation 21: 11091112 (2002) 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 (in press) Richards FH, Tassicker RJ, Kromberg JG and Singaram BM. Predictive genetic testing in children. Medical Journal of Australia 176: 507-507 (2002) Roberts R, Welsh L, Xiros N, Pineiro M and Kemp JG. Aerobic fitness and physical activity in asthmatic children. Respirology 7: 50 (2002) Robins-Browne RM and Hartland EL. Escherichia coli as a cause of diarrhea. Journal of Gastroenterology and Hepatology 17: 467-475 (2002) Robins-Browne RM, Tennant SM and Grant TH. Pathogenicity of Yersinia enterocolitica biotype 1 A. FEMS Immunology and Medical Microbiology (in press)
Reddihough DS and Collins C. Cerebral palsy and neurodegenerative disorders. In: Robinson M and Roberton D (eds). Practical Paediatrics 5th edition. Churchill Livingstone Publishers: Edinburgh (2002)
Robson A, Copnell B, Johnston L, Harrison D, Wilson A, Ramudu L, Mulcahy C, McDonnell G and Best C. Overseas experience of the Neonatal Nurse Practitioner role: lessons for Australia. Contemporary Nurse (in press)
Reddihough DS and Collins KJ. The epidemiology and causes of cerebral palsy. Australian Journal of Physiotherapy (2002)
Roseby R, Marks MK, Conn J and Sawyer SM. Improving medical student performance in adolescent smoking health promotion. Medical Education (in press)
Reddihough DS, King JA, Coleman GJ, Fosang AJ, McCoy AT, Thomason P and Graham HK. Functional outcome of botulinum toxin A injections to the lower limbs in cerebral palsy. Developmental Medicine and Child Neurology 44(12): 820-827 (2002)
Rosenthal MA, Ashley DL, Cher L. Temozolomide-induced flare in high-grade gliomas: a new clinical entity. Internal Medicine Journal 32: 346-348 (2002)
Reed KJ and Sinclair AH. FET-1: a novel W-linked, female specific gene up-regulated in the embryonic chicken ovary. Mechanisms of Development 2: 83-86 (2002) Reid J, Grant C, Reilly S, Vallino-Napoli L and Kilpatrick N. A preliminary investigation of sucking performance in dizygotic twins discordant for cleft lip and palate. Proceedings of the 2002 Speech Pathology Australia Conference 95-102 (2002)
76 ^ ANNUAL REPORT 2002
Rosenthal MA, Ashley D, Cher L. Treatment of high risk or recurrent meningiomas with hydroxyurea. Journal of Clinical Neurosciences 9(2): 156-158 (2002) Ruangpanit N, Price JT, Holmbeck K, Birkedal-Hansen H, Guenzler V, Huang X, Chan D, Bateman JF and Thompson EK. MT1-MMP-dependent and independent regulation of gelatinase A activation in long-term, ascorbate-treated skin fibroblasts: regulation by fibrillar collagen. Experimental Cell Research: 109-118 (2002)
Rubio JP, Bahio M, Butzkueven H, Van Der Mei lAF, Sale MM, Dickinson JL, Groom P, Johnson U, Simmons RD, Tait B, Varney M, Taylor B, Dwyer T, Williamson R, Gough NM, Kilpatrick TJ, Speed TP and Foote SJ. Genetic dissection of the human leukocyte antigen region by use of haplotypes of Tasmanians with Multiple Sclerosis. American Journai of Human Genetics 70: 1125-1137 (2002) Russ SA, Poulakis Z, Barker M, Wake M, Rickards F, Saunders K and Oberklaid F, Congenital hearing loss in Victoria, Australia: A prospective epidemiologic study. International Journal of Audiology (in press) Russ SA, Rickards F, Poulakis Z, Barker M, Saunders K and Wake M. Six year effectiveness of a population-based twotier infant hearing screening program. Archives of Disease in Childhood 86: 245-250 (2002) Russell F, Mulholland K. Prevention of otitis media by vaccination. Drugs 62:1441-1445 (2002) Russell EM, Starr M, Hayman JA, Curtis N and Johnson PDR. Mycobacterium ulcerans infection diagnosed by polymerase chain reaction. Journal of Paediatrics and Child Health 38:311-313 (2002) Saadah 01, Zacharin M, O'Callaghan A, Oliver MR and Catto-Smith AG. Effect of gluten free diet on growth and diabetic control in children with coexisting insulin dependent diabetes and coeliac disease. Archived Diseases in Childhood (in press) Saffery R and Choo KHA. Strategies for engineering human chromosomes with therapeutic potential. Journal of Genetic Medicine 4(1): 5-13 (2002) Saito M, Sharp NJH, Kortz G, De Lahunta A, Leventer RJ, Tokuriki M and Thrall DE. Magnetic resonance imaging features of lissencephaly in Lhasa Apsos. Veterinary Radiology and Ultrasound 43: 331-337 (2002) Samuel CS, Zhao C, Bathgate RA, Bond CP, Burton MD, Parry U, Summers RJ, Tang MLK, Amento EP and Tregear GW. Reiaxin deficiency in mice is associated with an age-related progression of pulmonary fibrosis. Federation of American Societies for Experimental Biology Journal (in press) Sand LA, Day NA, Coffey C, Patton GC and Bowes G. Simulations in evaluation of training: a medical example using standardised patients. Evaluation and Program Planning (2002) Savarirayan R, Cormier-Daire V, Amor DJ, Wilcox WR, Lachman RS and Rimoln DL. Prenatal cortical hyperostosis (Caffey disease). Paediatric Radiology 32: 694 (2002) Savarirayan R and Rimoin DL. The Skeletal Dysplasias (review article). In Cowell C (ed) Bailliere's Best Practice and Research Clinical Endocrinology and Metabolism 16 (2002)
Savarirayan R, Robertson SP and Rogers JG. Variable expression of campomelic dysplasia in a father and his 46,XY daughter. Paediatric Pathology Molecular Medicine (in press) Savarirayan R, White SM, Goodman FR, Graham JM, Delatycki MB, Lachman RS, Rimoin DL, Warman ML and Everman DB. Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. American Journal of Medical Genetics (in press) Savulescu J. Abortion, embryo destruction and the future of value argument. Journal of Medical Ethics 28: 133-135 (2002) Savulescu J. Beyond Bristol: taking responsibility Journal of Medical Ethics 28: 281-282 (2002) Savulescu J. Deaf lesbians, 'designer disability' and the future of medicine. British Medicai Journal 325: 771-773 (2002) Savulescu J. Is it time to abandon institutional research ethics committees? Monash Bioethics Review 21 (2002) Savulescu J. Is there a 'right not to be born'? Reproductive decision making, options and the right to information. Journal of Medical Ethics 28: 65-67 (2002) Savulescu J. The embryonic stem cell lottery and the cannibalization of human beings. Bioethics 16: 508-529 (2002) Savulescu J. Two deaths and two lessons: is it time to review the structure and function of research ethics committees? Journal of Medical Ethics 28: 1-2 (2002) Savulescu J and Spriggs M. The hexamethonium asthma study and the death of a normal volunteer in research. Journal of Medical Ethics 28: 3-4 (2002) Sawyer SM. Action plans, self-monitoring and adherence: changing behaviour to promote better self-management. Medical Journal of Australia 177: 72-74 (2002) Sawyer SM. On Being Proven Wrong. Meanjin 61(4): 65-70 (2002) Sawyer SM, Zalan A and Bond LM. Telephone reminders improve adolescent clinic attendance: a randomized controlled trial. Journal of Paediatrics and Child Health 38: 79-83 (2002) Saxena A, Saffery R, Wong LH, Kalitsis P and Choo KHA. Centromere proteins Cenpa, Cenpb, and Bub3 interact with poly(ADP-ribose) polymerase-1 protein and are poly(ADP-ribosyl)ated. Journal of Biological Chemistry 277: 26921-26926 (2002)
Saxena A, Wong LH, Kalitsis P, Earle E, Shaffer LG and Choo KHA. Poly(ADP-ribose) polymerase 2 localizes to mammalian active centromeres and interacts with PARP-1, Cenpa, Cenpb and Bub3, but not Cenpc. Human Molecular Genetics 11: 2319-2329(2002) Scher Al, Petterson B, Blair E, Ellenberg JH, Grether JK, Haan E, Reddihough DS, Yeargin-Allsopp M and Nelson KB. The risk of cerebral palsy in twins: a collaborative population-based study Pediatric Research 52(5): 671-681 (2002) Schmidt B, Wright LL, Davis P, Solimano A and Roberts RS. Ibuprofen prophylaxis in preterm neonates. The Lancet 360: 492-492 (2002) Schmidt-Neven R, Anderson V and Godber T. Attention Deficit / Hyperactivity Disorder. In: A Disease of Our Time. Allen and Unwin: Sydney (2002) Schmitt JF, Millar DS, Pedersen J, Clark S, Venter DJ, Frydenberg M, Molloy PL and Risbridger GP. Hypermethylation of the inhibin subunit gene in prostate carcinoma. Journal of Molecular Endocrinology 16: 213220 (2002) Setterfield K, Williams AJ, Donald J, Thorburn DR, Kirby DM, Trounce I and Christodoulou J. Flow cytometry in the study of mitochondrial respiratory chain disorders. Mitochondrion 1: 437-445 (2002) Shand JM, Heggie AAC, Holmes AD and Holmes W. Allogenic bone grafting of calvarial defects: an experimental study in the rabbit. International Journal of Oral and Maxillofacial Surgery 31: 525-531 (2002) Sheffield U, Prenatal screening and diagnosis of genetic disorders. Current Therapeutics April: 12-18 (2002) Sheffield U. The hunt for new genes and polymorphisms that can control the response to drugs. Pharmacogenetics 3: 679-686 (2002) Shelby-James T, Leach AJ, Carapetis JR, Currie BJ and Mathews JD. Impact of single dose azithromycin on group A streptococci in the upper respiratory tract and skin of Aboriginal children. Pediatric Infectious Diseases 21: 375380 (2002) Shin YM, Southwell BR, Stanton MP and Hutson JM. Signs and symptoms of slow transit constipation versus functional retention. Journal of Pediatric Surgery 37: 1762-1763 (2002) Shore EM, Ahn J, De Beur SJ, Li M, Xu M, Gardner RJ, Zasloff MA, Whyte MP, Levine MA and Kaplan FS. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. New England Journal of Medicine 346: 99-99 (2002)
Silke J, Hawkins CJ, Ekert PG, Chew J, Day CL, Pakusch M, Verhagen AM and Vaux DL. The anti-apoptotic activity of XIAP is retained upon mutation of both the caspase 3 and 9 interacting site. Journal of Cell Biology 157: 115-124 (2002) Sim EU, Smith A, Szilagi E, Rae P, loannou PA, Lindsay MH and Little MH. Wnt-4 regulation by the Wilm's Tumour Suppressor Gene, WTl. Oncogene 21: 2948-2960 (2002) Sinclair AH, Smith C, Western PS and McClive PJ. A comparative analysis of vertebrate sex determination. The Genetics and Biology of Sex Determination, Novartis Foundation Symposium: 102-114 (2002) Sing R, Gardner RJ, Crossland KM, Scheffer IE and Berkovic SF. Chromosomal abnormalities in epilepsy: a review for clinicians and gene hunters. Experimental Cell Research 43: 127-140(2002) Sitte K, Zaibak F, Delatycki MB and loannou PA. Normal levels of soluble transferrin receptor in Friedreich Ataxia. Clinical Genetics 62: 250-251 (2002) Smart JM, Horak E, Kemp AS, Robertson CP and Tang MLK. Polyclonal and allergen-induced cytokine responses in adults with asthma: resolution of asthma is associated with normalization of IFN-gamma responses. Journal of Allergy and Clinical Immunology 110: 450-456 (2002) Smart JM and Kemp AS. increased Thl and Th2 allergeninduced cytokine responses in children with atopic disease. Clinical and Experimental Allergy 32: 796-802 (2002)
Southwell BR. Localisation of Protein Kinase C. Theta immunoreactivity to Interstitial Cells of Cajal in Guinea Pig Gastrointestinal Tract. Neurogastroenterology and Motility 15: 1-9 (in press) Spriggs M. Genetically selected baby free of inherited predisposition to early-onset Alzheimer's disease. Journal of Medical Ethics 28: 290-290 (2002) Spriggs M. Lesbian couple create a child who is deaf like them. Journal of Medical Ethics 28: 283-283 (2002) Spriggs M. Protection of the welfare and the rights of participants in research. Monash Bioethics Review 21: 39-42 (2002) Spriggs M and Savulescu J. Saviour siblings. Journal of Medical Ethics 28: 289-289 (2002) Spriggs M and Savulescu J. The Perruche judgment and the 'right not to be born'. Journal of Medical Ethics 38: 63-64 (2002) Squitieri F, Gellera C, Cislaghi G, Cannella M, Mariotti C, Almqvist EW, Turner D, Bachoud-Levi AC, Rubinsztein DC, Cattaneo E, Delatycki MB, Maglione V, Hayden MR and Di Donato S. CAG mutation homozygosity in the Huntington disease gene. Brain (in press) Stanton H and Fosang AJ. Matrix metailoproteinases are active following guanidine hydrochloride extraction of cartilage: generation of DiPEN neoepitope during dialysis. Matrix Biology 21: 425-428 (2002)
Smart JM, Kemp AS and Armstrong DS. Pneumocystis carinii pneumonia in an infant with transient hypogammaglobulinaemia of infancy. Archives of Disease in Childhood 87: 449-450 (2002)
Stanton H, Ung L and Fosang AJ. The 45kDa collagen binding fragment of fibronectin induces matrix metalloproteinase-13 synthesis by chondrocytes and aggrecan degradation by aggrecanases. Biochemical Journal 364: 181-190(2002)
Smart JM, Tang MLK and Kemp AS. Polyclonal and allergy-induced cytokine responses in children with elevated IgE but no atopic disease. Clinical and Experimental Allergy 32: 1552-1557 (2002)
Stanton MP, Penington EC and Hutson JM. Case Report: a surviving infant with sirenomelia and bladder agenesis (mermaid syndrome). Journal of Pediatric Surgery (in press)
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 DOi: 10.1095/biolreprod. 102.007294 (2002)
Stanton MP, Shin YM and Hutson JM. Technical innovation: Chait caecostomy device used with laparoscopic appendicostomy. Journal of Pediatric Surgery 37: 1766-1767 (2002)
Smith CA, Hurley TM, McClive PJ and Sinclair AH. Restricted expression of DMRT3 in chicken and mouse embryos. Mechanisms of Development 2: 69-72 (2002)
Stargatt R, Anderson V and Rosenfeld J. Neuropsychological outcomes of children treated for posterior fossa tumours: A review. Brain Impairment 3(2): 92-104 (2002)
Solomon NM, Nouri S, Warne G, Lagerstrom-Fermer M, Forrest SM and Thomas P. Increased gene dosage at Xq26q27 is associated with X-linked hypopituitarism (XH). Genomics 79(4): 553-559 (2002)
Stehens FD, Smith ED and Hutson JM. Congenital anomalies of the kidney, urinary and genital tracts 2nd edition. In: Dunitz M (ed). London (2002)
Sotutu V, Carapetis JR, Wilkinson J, Davis AM and Curtis N. The 'surreptitious staphylococcus'- staphylococcus lugdunensis endocarditis in a child. Pediatric Infectious Diseases 21: 984-986 (2002)
Stone C, McLachlan KA, Halliday J, Wein P and Tippett C. Gestational diabetes as diagnosed in Victoria in 1996: Incidence, risk faaors and outcomes. Medical Journal of Australia 177: 486-491 (2002)
I
Stuss D and Anderson V. The frontal lobes and theory of mind: Developmental concepts from adult focal lesion research. Brain and Language (in press) Summerbell C, Waters E, O'Meara S and Campbell K. Interventions for treating obesity in children. In: Cochrane Review 4. Oxford (2002) Tang MLK. Is prevention of childhood asthma possible? Allergens, infections and animals. Medical Journal of Australia 177: 75-77 (2002)
to
3 to
Tauschek M, Gorrell RJ, Strugnell RA and Robins-Browne RM. Identification of a protein secretory pathway for the secretion of heat-labile enterotoxin by an enterotoxigenic strain of Escherichia coli. Proceedings of the National Academy of Sciences of the United States of America 99: 7066-7071 (2002)
u 0£ Od
Z3
o
Tassicker RJ, Savulescu J, Skene L, Marshall P, Fitzgerald L and Delatycki MB. Prenatal diagnosis requests for Huntington disease where the at-risk father does not wish to know his genetic status - a clinical, legal and ethical viewpoint. British Medical Journal (in press) Tauschek M, Strugnell RA and Robins-Browne RM. Characterization and evidence of mobilization of the LEE pathogenicity island of rabbit-specific strains of enteropathogenic Escherichia coli. Molecular Microbiology 44: 1533-1550 (2002) Tennant SM, Skinner NA, Joe A, Robins-Browne RM. Yersinia enterocolitica biotype 1 A: not as harmless as you think. In: Skurnik M (ed). The genus Yersinia. Kluwer Plenum (2002) Thompson N, Taylor T, McCarthy K, Cosgrove A and Baker R. Effect of a rigid ankle-foot orthosis on hamstring length in children with hemiplegia. Developmental Medicine and Child Neurology 44: 51-57 (2002) Thornton C, Heyderman RS, Thorniley M, Curtis N, Mielke J, Pasvol G and Newton DE. Auditory-and somatosensoryevoked potentials in cerebral malaria and anaesthesia: a comparison. European Journal of Anaesthesiology 19: 717-726 (2002) Tibbals J and Monagle P. Tiger snake evenomation and disseminated intravascular coagulation(DIC). Pathology: 481-482 (2002) Toumbourou JW and Gregg ME. Impact of an Empowerment-based Parent Education Program on the Reduction of Youth Suicide Risk Factors. Journal of Adolescent Health 31: 277-285 (2002) Toumbourou JW, Hamilton M, U'Ren A, Stevens-Jones P and Storey G. Narcotics Anonymous participation and changes in substance use and social support. Journal of Substance Abuse Treatment 23: 61-66 (2002)
ANNUAL REPORT 2002
77
Vadolas J, Wardan H, Orford M, Voullaire L, Zaibak F, Williamson R and loannou PA. Development of sensitive fluorescent assays for embryonic and foetal hemoglobin inducers using the beta-globin locus in erythropoietic cells. Blood 100: 4209-4216 (2002)
Wake M, Waters E, Salmon L, Wright M and Hesketh K. Parent-reported health status of overweight and obese Australian primary school children: a cross-sectional population survey. International Journal of Obesity 26717-724 (2002)
Waters E, Wake M, Hesketh K, Ashley 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 (2002)
Vadolas J, Williamson R and loannou PA. Gene therapy for inherited lung disorders: an insight into pulmonary defence. Pulmonary Pharmacology and Therapeutics 15: 61-72 (2002)
Walstab J, Bell R, Reddihough DS, Brennecke S, Bessell C and Beischer N. Antenatal and intrapartum antecedents of cerebral palsy: a case-control study. Australian and New Zealand Journal of Obstetrics and Gynaecology 42(2): 138-146 (2002)
Wattenhofer M, Di lorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, lliades T, Pasquadibisceglie A, D'Amelio M, Alwan 5, Bossier C, Dahl HHM, Petersen MB, Estivill X, Gasparini R Scott HS and Antonarakis SE. Mutations in the TMPRSS3 gene are a rare cause of childhood non-syndromic deafness in Caucasian patients. Journal of Molecular Medicine 80: 124-131 (2002)
Van Diest P and Savulescu J. Education and debate: For and against: No consent should be needed for using leftover body material for scientific purposes. British Medical Journal 325: 648-651 (2002) Van Hove JL, Van Damme-Lombaerts R, Grunewald S, Peters H, Van Damme B, Fryns JR Arnout J, Wevers R, Baumgarten ER and Fowler B. Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy. American Journal of Medical Genetics 111(2): 195-201 (2002) Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix A, Graham JM, Winter RM, Leventer RJ and Dobyns WB. A locus for bilateral perisylvian polymicrogyria maps to Xq28. American Journal of Human Genetics 70: 1003-1008 (2002) Vimpani G, Patton GC and Hayes A. The relevance of child and adolescent health development for outcomes in education, health and life success. In: Ann Sanson (ed). Children's Health and Development - research report 8. Australian Institute of Family Studies (2002) Vinod MB, Matussek J, Curtis N, Graham HK and Carapetis JR. Duration of antibiotics in children with osteomyelitis and septic arthritis. Journal of Paediatrics and Child Health 38: 363-367 (2002) Visapaa I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS, Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A and Peltonen L. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. American Journal of Human Genetics 71: 863-876 (2002) Voullaire L, Wilton L, McBain J, Callaghan T and Williamson R. Chromosome abnormalities identified by comparative genomic hybridization in embryos from women with repeated implantation failure. Molecular Human Reproduction 8: 1035-1041 (2002) Wake M and Hesketh K. Teething symptoms: cross-sectional survey of five groups of child health professionals. British Medical Journal 325: 814 (2002) 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 (in press) 78 ^ ANNUAL REPORT 2002
Walstab J, Bell R, Reddihough DS, Brennecke S, Bessell C and Beischer N. Maternal anticedents of cerebral palsy in preterm infants. Developmental Medicine and Child Neurology 44(7): 498 (2002) Walter JH, White FJ, Hall SK, MacDonald A, Rylanee G, Boneh A, Francis DE, Shortland GJ, Schmidt M and Vail A. How practical are recommendations for dietary control in phenylketonuira? The Lancet 6: 55-57 (2002) Warne GL. Long term follow up on CAH. The Endocrinologist (in press) Warne GL. Support Groups for AIS and CAH. The Endocrinologist (in press) Warne GL. The Ethics of Gender Assignment. The Endocrinologist (in press) Warne GL. The management of ambiguous genitalia at birth. In: The Multidisciplinary Approach to the Management of Paediatric and Adolescent Gynaecology. Cambridge University Press (in press) Warne GL and Kanumakala S. Molecular endocrinology of sex differentiation. Seminars in Reproductive Medicine 20: 170-179 (2002) Waters E. Using an evidence-based approach to paediatric problem - the Cochrane perspective. Journal of Paediatrics and Child Health (in press) Waters E and Baur L. Childhood obesity - modernity's scourge. Medical Journal of Australia (in press) Waters E and Doyle J. Evidence-based public health: implications for public health practice. Journal of Public Health Medicine (in press)
Watson L, Watson M, Halliday J and Bell R. Consequences of surveying folate awareness. Health Expectations 5: 38-46 (2002) Weber MW, Herman J, Jaffar S, Usen S, Oparaugo A, Omosigho C, Adegbola R, Greenwood BM and Mulholland EK. Clinical predictors of bacterial meningitis in infants and young children in the Gambia. Tropical Medicine and International Health 7: 722-731 (2002) Weber MW, Milligan R Sanneh M, Awemoyi A, Dakour R, Schneider G, Palmer A, Jallow M, Oparaugo A, Whittle H, Mulholland EK and Greenwood BM. An epidemiological study of RSV infection in the Gambia. Bulletin of the World Health Organization 80: 562-568 (2002) Weber M, Palmer A and Mulholland K. Integrated management of childhood illness. In: Parry E and Mabey D (eds). Principles of Medicine in Africa 3rd edition. Cambridge University Press (in press) Weller RJ, Weintraub RG, Addonizio U, Gersony WM and Hsu DT. Outcome of idiopathic restrictive cardiomyopathy in children. American Journal of Cardiology 90: 501-506 (2002) Westling J, Fosang AJ, Last K, Thompson VP, Tomkinson KN, Hebert T, McDonagh T, Collins-Racie LA, Lavallie ER, Morris EA and Sandy JD. ADAMTS4 cleaves at the aggrecanase site (Glu373-Ala374) and secondarily at the matrix metalloproteinase site (Asn341-Phe342) in the aggrecan interglobular domain. Journal of Biological Chemistry 277: 16059-16066 (2002)
Willis S, Hutchins AM, Hammet F, Ciciulla J, Soo WK, White D, Van Der Spek R Henderson MA, Gish K, Venter DJ and Armes JE, Detailed gene copy number and RNA expression analysis of the 17ql2-23 region in primary breast cancers. Genes, Chromosomes and Cancer (in press) Wilson R, Freddi S and Bateman JF. Collagen X chains harboring Schmid metaphyseal chondrodysplasia NCI domain mutations are selectively retained and degraded in stably transfected cells. Journal of Biological Chemistry 277: 12516-12524 (2002) Wong J, Zacharin M, Hocking N and Robinson P. Growth and adrenal suppression in asthmatic children on moderate to high doses of fluticasone propionate. Journal of Paediatrics and Child Health 38 (1): 59-62 (2002) Wong LH, Saffery R and Choo KHA. Construction of neocentromere-based human minichromosomes for gene delivery and centromere studies. Gene Therapy. 9(11): 724-726 (2002) Wu K, Anderson V and Castielo U. Neuropsychological evaluation of deficits in executive functioning for ADHD children with or without LD. Developmental Neuropsychology 22: 501-531 (2002) Yiu WL, Smith AL and Catto-Smith AG. Nasogastric rehydration in acute gastroenteritis. Journal of Paediatrics and Child Health (in press) Zacharin M. Iodine deficiency and goitre in an urban population - Victoria 2001. Medical Journal of Australia (in press) Zacharin M. McCune Albright syndrome in a child, complicated by acromegaly and precocious puberty Journal of Clinical Endocrinology and Metabolism (in press) Zacharin M and Bateman J. Pamidronate treatment of osteogenesis imperfecta in children - lack of correlation between clinical severity, age at onset of treatment, collagen mutation and treatment. Response. Journal of Paediatric Endocrinology and Metabolism 15: 163-174 (2002)
Waters E and Doyle J. Evidence-based public health practice: improving the quality and quantity of the evidence. Journal of Public Health Medicine 24(3): 227-229 (2002)
White PJ, Gray AC, Fogarty RD, Sinclair RD, Werther GA and Wraight CJ. C-5 propyne-modified antisense oligonucleotides penetrate the epidermis in psoriatic and not normal skin after topical application. Journal of Investigative Dermatology 118: 1003-1007 (2002)
Zacharin M, Pua J and Kanumakala S. Cross sectional study of bone mineral density in hypogonadal men undergoing longterm treatment with subcutaneous testosterone. Journal of Clinical Endocrinology (in press)
Waters E, Hesketh K and Williams J. Public health aspects of obesity in childhood. In Touch 19(3): 10-11 (2002)
White SM. Dysmorphology assessment of the newborn. In: The Neonatal Handbook (2002)
Zhou B, Watts LM, Hasthorpe S, Ul-lslam N and Hutson JM. Human chorionic gonadotrophin (hCG) stimulates spermatogenesis in immature mice in vivo. Journal Pediatric Surgery 37: 1751-1753 (2002)
Williamson R and Duncan R. DNA testing for all. Nature 418: 585-586(2002)
I
OUR TEAM
Staff list Director Professor Bob Williamson FRS FAA Chief Operating Officer Anne Cronin Associate Directors Anne Cronin - Chief Operating Officer Professor John Bateman - Laboratory Research Professor John Flutson - Clinical Research Professor Kerr Graham - Clinical Research Professor George Patton - Public Fleaith Research Professor Frank Oberklaid - Public Health Research Professor Andy Choo - Strategy Administrative Support Kylie Morrell - Executive Assistant to Director Colleen King - Personal Assistant to COO Helen Raschella - Administrative Assistant Rachael Lorkin - Administrative Support Vicki Hirt - Receptionist Fiona Keltie - Receptionist Bioinformatics Dr Katrina Bell - Bioinformatics Officer Building and Scientific Services Barry Holt - Building and Development Manager Andrew Grimes - Technical Services Manager Marisa Fielding - Purchasing/OH&S Manager Finance Viren Abeyasinghe - Finance Manager Danielle Di Carlo - Accountant Areta Smith - Accountant Rebecca Harford - Accounts Christine Keenan - Patient Accounts Neofita Hajigeorgi - Patient Accounts Grants Julia Malone - Grants Officer Graphic Design Michele Winsor - Photographer/Graphic Artist Voula Boukouvalas - Graphic Designer Human Resources Kathryn Bellion - Human Resources Manager Nicki Carr - Human Resources Officer Kate Duckworth - Human Resources Assistant Information Technology George Teng - IT Manager
80 ^ ANNUAL REPORT 2002
Joe Nuchthapho - Network Officer Jason Elliott - Web Administrator Quinten Miller - Support Officer Jim Ristevski - Support Officer Shilpa Shah - Support Officer Payroll Debbie Zombolas - Payroll Manager Sandra Nield - Payroll Officer Marie-Antoinette van Lunenburg - Payroll Officer Sharon Dughetti - Payroll Officer Public Relations Dr Narelle Curtis - Public Relations Manager Deborah Bugeira - Communications Officer Kate Longton - Communications Coordinator Special Projects Angela Stefani - Project Officer Elizabeth Cooper - Research Assistant Technical Support Marjorie Crawford - Technical Officer Maggie Aziz - Technical Assistant Karen Badman - Technical Assistant Roseanna Bhagwandas - Technical Assistant Blanche Dekker - Technical Assistant Dino Disint - Technical Assistant Matthew Newman - Technical Assistant Josefina Perez - Technical Assistant Adolescent Health Professor George Patton - Group Leader A/Professor Susan Sawyer - Group Leader Dr Lyndal Bond - Program Manager Craig Hodges - Program Manager Cecily Tange - Business Manager Dr Joanne Williams - Senior Research Fellow A/Professor John Toumbourou - 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 Dr Lena Sanci - Postdoctoral Fellow Celia Godfrey - Research Officer John Hargreaves - Research Officer Ian Williams - Research Officer Simone Bassi - Research Assistant Damien Becker - Research Assistant Denise Becker - Research Assistant Nadine Bertalli - Research Assistant Bernadette Beyer - Research Assistant
Sueellen Blake - Research Assistant Petra Cahir - Research Assistant Sandra Cahir - Research Assistant Eileen Cini - Research Assistant Jackie Clements - Research Assistant Sarah Davis - Research Assistant Mary Dimovski - Research Assistant Daniel En/in - Research Assistant Tiana Felmingham - Research Assistant Andrew Gavin - Research Assistant Angela Hassett - Research Assistant Raelene Howard - Research Assistant Lucinda Johnson - Research Assistant Lucinda Jordan - Research Assistant Lisa Lagozzino - Research Assistant Dr Andrew Lovett - Research Assistant Helen Madill - Research Assistant Hamish Malloy - Research Assistant Megan Mathers - Research Assistant Lucy Mayes - Research Assistant Morag McKillop - Research Assistant Susan Melbourne - Research Assistant Michael Menton - Research Assistant Alexia Parlis - Research Assistant Areti Plitas - Research Assistant Tania Slaviero - Research Assistant Claire Stevens - Research Assistant Antonia Stuart - Research Assistant Anthony Thomas - Research Assistant Susan Van Daatselenaar - Research Assistant Suzanne Warner - Research Assistant Jane Watson - Research Assistant Caroline Wearne - Research Assistant Jasmine Wong - Research Assistant Deniz Yaka - Research Assistant Lorraine Beyer - Project Manager Dr Tracy Evans-Whipp - Projea Manager Andrea Krelle - Project Manager Sian Lloyd - Project Manager Matt O'Brien - Project Manager Penny Weller - Project Manager Sarah Wolfe - Project Manager Helen Butler - Project Coordinator Cathy Bauld - PhD Scholar Deirdre Gartland - PhD Scholar Stephani Jones - PhD Scholar Karen Rowland - PhD Scholar Dr Michele Yeo - PhD Scholar Mark Vella - AMS Scholar Jennifer Nazareth - Personal Assistant
Diana Crocker - Administrative Officer Fiona Olsson - Administrative Officer Elke Power - Administrative Officer Charmaine Sambathkumar - Administrative Officer Denice Spence - Administrative Coordinator Allied Health & Nursing A/Professor Linda Johnston - Group Leader Professor Sheena Reilly - Group Leader Adrienne Fosang - Senior Physiotherapist Christine Imms - Senior Occupational Therapist Brian Lilley - Head, Pharmacy Jane Miller - Head, Social Work Bronwyn Parry-Fielder - Head, Speech Pathology Robyn Stargatt - Neuropsychologist Bev Copnell - Senior Research Assistant Anne McCoy - Head, Physiotherapy Jane Orton - Research Physiotherapist Karen Fitzgerald - Social Worker Helen Shoemark - Reg Music Therapist Denise Harrison - Research Assistant Mia Rowe - Research Assistant Dr Linda Vallino-Napoli - Research Assistant Kate Carroll - PhD Scholar Sue Debney - PhD Scholar Hilary Dent - PhD Scholar Bev Eldridge - PhD Scholar Adrienne Han/ey - PhD Scholar Julie Reid - PhD Scholar Elizabeth Williams - Masters Student/Lecturer Jodi Crompton - Masters Student Anaesthesia & Pain Management Dr Chris Bolton - PhD Scholar/Staff Anaesthetist Ian McKenzie - Anaesthetist APPRU Dr Noel Cranswick - Group Leader Yvonne Wrigglesworth - Business Development Susan Ziolkowski - Clinical Trial Manager Nicole Davidson - Clinical Trial Coordinator Sophie Uren - Clinical Trial Coordinator Jennifer Waller - Clinical Trial Coordinator Tria Williams - Clinical Trial Recruitment Officer Dr Alissa Urn - MD Scholar Asthma, Allergy & Immune Disorders Dr Mimi Tang - Group Leader Professor Andrew Kemp - Head, Immunology Dr David Hill - Head, Allergy
Dr Matthew Burton - Postdoctoral Fellow Jenny Brown - Research Nurse Leone Thiele - Research Nurse Ross McKenzie - PhD Scholar Dr Joanne Smart - PhD Scholar Cancer Biology, Therapies & Trials A/Professor David Ashley - Group Leader Dr Christine Hawkins - Group Leader Dr Paul Monagle - Head, Laboratory Services Dr Simon Bol - Cord Blood Bank Manager Jeanette Ripper - Project Scientist Cord Blood Bank Dr John Heath - Senior Research Fellow Dr Elizabeth Algar - Research Fellow Dr Denise Caruso - Research Fellow Dr Ngaire Elwood - Research Fellow Dr Vera Ignjatovic - Research Fellow Dr Anne Mitchell - Senior Research Officer Dr Melissa Knight - Postdoctoral Fellow Lisa Ferrigno - Cord Blood/Research Assistant Melissa Ferguson - Research Assistant Janine Furmedge - Research Assistant Shan Li - Research Assistant Andrea Muscat - Research Assistant Alana Neale - Research Assistant Chris Riffkin - Research Assistant Billie Bogdan - Laboratory Assistant Jane Kaye - Cord Blood Research Assistant Fiona Shields - Cord Blood Research Assistant Glenda Stewart - Cord Blood Research Assistant Naomi Adler - Cord Blood Technician Susan Pongrac - Cord Blood Technician Po-Ki Ho - PhD Scholar Anissa Jabbour - PhD Scholar Dhara Perera - Honours Student Marguerite Wijetunge - Office Coordinator Cancer Genomics A/Professor Deon Venter - Group Leader Dr Natalia Yarovaya - Postdoctoral Fellow John Ciclulla - Research Assistant Tiffany Cowie - 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 CEBU Professor John Carlin - Group Leader
Dr Sue Skull - Group Leader Dr Stephen Lambert - Senior Research Fellow Professor Terry Nolan - Honorary Fellow Dr Rory Wolfe - Honorary Fellow Jacinta O'Sullivan - Study Coordinator Kerry-Anne O'Grady - Senior Research Officer Kelly Allen - Research Assistant Claire Brophy - Research Assistant Janina Chapman - Research Assistant Claudia Chionh - Research Assistant Samantha Colquhoun - Research Assistant Dale Cooper - Research Assistant Gabrielle Davie - Research Assistant Susie Gabriel - Research Assistant Phil Greenwood - Research Assistant Kris Jamsen - Research Assistant Loraine Kelpie - Research Assistant Ning Li - Research Assistant Betty Lim - Research Assistant Ethna Macken - Research Assistant Bernadette McCudden - Research Assistant Liz McGrath - Research Assistant Sally Mizrahi - Research Assistant Jane Nelson - Research Assistant Evangeline Patricio - Research Assistant Jan Renehan - Research Assistant Susan Rogers - Research Assistant Jane Ryrie - Research Assistant Deborah Saunders - Research Assistant Barbra Sherry - Research Assistant Pamela Sinclair - Research Assistant Suzanna Vidmar - Research Assistant Dr Dianne Brown - Research Medical Officer Dr Declan Green - Research Medical Officer Dr Phil Hoffman - Research Medical Officer Dr Vanessa Johnston - Research Medical Officer Dr Nicole Rose - Research Medical Officer Dr Loretta Thorn - Research Medical Officer Lyndal Thomas - PhD Scholar Sandra Dickin - Administrative Assistant Cell & Gene Therapy A/Professor Panos loannou - Group Leader Dr Katie Allen - Clinical Research Fellow Dr Martin Delatycki - Clinical Research Fellow Dr Keith Al-Hasani - Postdoctoral Fellow Dr Joe Sarsero - Postdoctoral Fellow Dr Karin Sitte - Postdoctoral Fellow Dr Jim Vadolas - Postdoctoral Fellow Dr Katarina Ejeskar - Visiting Postdoctoral Fellow Daphne Cheah - Research Officer
Tim Holloway - Research Assistant LIngli Li - Research Assistant Hady Wardan - Research Assistant Jamsai Duangporn - PhD Scholar Alan Ki Kong - PhD Scholar Sam McLenachan - PhD Scholar Dr Heidi Peters - PhD Scholar Faten Zaibak - PhD Scholar Abby Lee - AMS Scholar Michelle Lee - AMS Scholar Moon Ley Tung - AMS Scholar Kim Simpfendorfer - Honours Student Marco Bosmans - Visiting Student Richard de Boer - Visiting Student Ingerborg Schreuder - Visiting Student Aviral Vatsa - Visiting Student Max Voncken - Visiting Student Chris Wang - Visiting Student Evanthios Tamanas - Technical Assistant Peta Clancy - Resident Artist Cell & Matrix Biology Professor John Bateman - Group Leader Dr Amanda Fosang - Group Leader Dr Chris Little - Research Fellow Dr Richard Wilson - Research Fellow Dr Jamie Fitzgerald - Senior Research Officer Dr Shireen Lamande - Senior Research Officer Dr Daniele Belluoccio - Postdoctoral Fellow Dr Heather Stanton - Postdoctoral Fellow Naomi Barratt - Research Assistant Suzanne Golub - Research Assistant Irma Gresshoff - Research Assistant Robyn McNeil - Research Assistant Clare Meeker - Research Assistant Sharon Rudd - Research Assistant Malgorzata Zieba - Research Assistant Justin Allen - PhD Scholar Naomi Baker - PhD Scholar Jessica Faggian - PhD Scholar Chris Poon - PhD Scholar Annette Jarry - Laboratory Technician Shirley D'Cruz - Personal Assistant Child Development & Rehabilitation A/Professor Dinah Reddihough - Group Leader Dr Giuliana Antolovich - Research Fellow Katie Hazard - Research Assistant Anna Lanigan - Research Assistant Vicki Petrou - Research Assistant Sue Reid - Research Assistant
Janet Walstab - Research Assistant Anne Rickards - Research Psychologist Roslyn Wright-Rossi - Early Intervention Teacher Chromosome Research Professor Andy Choo - Group Leader Dr Paul Kalitsis - Senior Research Officer Dr Richard Saffery - Senior Research Officer Dr Karen Bentley - Postdoctoral Fellow Dr Jeff Craig - Postdoctoral Fellow Dr Johanna Perry - Postdoctoral Fellow Dr Hua Ren - Postdoctoral Fellow Dr Michael Theophilos - Postdoctoral Fellow Dr Lee Wong - Postdoctoral Fellow Elizabeth Earle - Research Officer Melissa Anderson - Research Assistant Belinda Griffiths - Research Assistant Julie Quach - Research Assistant Mandy Sibson - Research Assistant Angela Stafford - Research Assistant Dr David Amor - PhD Scholar Sarah Chan - PhD Scholar Sara Hassan - PhD Scholar Danielle Irvine - PhD Scholar Owen Marshall - PhD Scholar Alka Saxena - PhD Scholar Huseyin Sumer - PhD Scholar Nick Wong - PhD Scholar
s
<
lU
oc
D
o
Community Child Health Professor Frank Oberklaid - Group Leader Dr Melissa Wake - Group Leader Dr Elizabeth Waters - Group Leader June McLoughlin - Early Childhood Unit Dr Tim Moore - Senior Research Fellow Dr Daryl Efron - Paediatrician Dr Sharon Goldfeld - Paediatrician Dr Harriet Hiscock - Paediatrician Dr Jillian Sewell - Paediatrician Dr Martin Wright - Senior Lecturer Alison Hutchison - Operations Officer Jordana Bayer - Project Officer Julie Green - Senior Research Officer Melinda Barker - Research Officer Dr Anjali Haikerwal - Research Officer Zeffie Poulakis - Research Officer Jane Caldwell - Research Assistant Christy Collins - Research Assistant Susan Gallagher - Research Assistant Bibi Gerner - Research Assistant Elizabeth Hughes - Research Assistant ANNUAL REPORT 2002
81
Vanessa McKay - Research Assistant Elise Morton-Allen - Research Assistant Louisa Salmon - Research Assistant Jane Sheehan - Research Assistant Sherryn Tobin - Research Assistant Marleen Westerveld - Research Assistant Emma Pritchard - Injury Research Coordinator Jodie Doyle - Field Administrator Nicki Jackson - Senior Education & Training Officer Kylie Hesketh - PhD Scholar Dr Zoe McCallum - PhD Scholar Helen Boyce - Finance Officer Lynne Dredge - Finance Officer Fides Ferlin - Administrative Assistant Diana Trinchera - Administrative Assistant Craniofacial Sciences A/Professor Nicky Kilpatrick - Group Leader Professor Sheena Reilly - Principal Research Fellow Andrew Heggie - Maxillofacial Surgeon Dr Michael Aldred - Oral Medicine Research Dr James Lucas - Paediatric Dentist Mark Gussy - Research Assistant Annette de Costa - PhD Scholar Dr Negar Jamshidi - PhD Scholar Julie Reid - PhD Scholar Timna Dunn - Masters Student Dermal Therapeutics Dr Christopher Wraight - Group Leader Dr Lynne Alley - Senior Research Officer Dr Stephanie Edmondson - Senior Research Officer Dr Leab Sek - Postdoctoral Fellow Anna Kilgour - Business Manager Frank Anastasopoulos - Research Assistant Leanne Bullas - Research Assistant Rhys Fogarty - Research Assistant Susan Thumiger - Research Assistant Brian Loh - AMS Scholar Disease Models Dr Kerry Fowler - Group Leader Sophie Gazeas - Senior Technical Officer Julia Broughton - Technical Assistant Nicole Kerr - Technical Assistant Boni McComb - Technical Assistant Anick Sylvain - Technical Assistant Carly Turner - Technical Assistant Early Determinants of Health Dr Ruth Morley - Group Leader Jodie Bond - Dietitian
82 ^ ANNUAL REPORT 2002
Noreen Condon - Research Midwife Maggie Flood - Research Midwife Kathy Kolk - Research Midwife Liz Sykes - Research Midwife Priya Duggal - Research Assistant Embryology Dr Don Newgreen - Group Leader Dr Peter Farlie - Senior Research Officer Tanya Hatzistavrou - Research Assistant Joe Minichiello - Research Assistant Gullveig Reed - Research Assistant Dr Damien Bates - PhD Scholar Natalie Jones - PhD Scholar Samara Lewis - PhD Scholar Sonja McKeown - PhD Scholar Gabrielle Jonkers - Visiting student Emergency Medicine Sharon Rankin - Resource Manager Maureen Spicer - Research Coordinator Enteric Viruses Professor Ruth Bishop - Group Leader Professor Graeme Barnes - Group Leader Dr Jim Buttery - Senior Research Officer Dr Carl Kirkwood - Senior Research Officer Nada Bogdanovic-Sakran - Research Assistant Karen Boniface - Research Assistant Ruth Clark - Research Assistant Ethics Professor Julian Savulescu - Group Leader Dr Merle Spriggs - Postdoctoral Fellow Dr David Rodin - Visiting Fellow Mary Rillstone - Research Officer Bennett Foddy - Research Assistant Rony Duncan - PhD Scholar Larelle Bossi - UROP Scholar Melanie Hemsiey - UROP Scholar Gene Discovery Dr Michael Lynch - Group Leader Dr RIc Anney - Group Leader Elizabeth Fitzpatrick - Research Assistant Tanya Hatzistavrou - Research Assistant Mehrnoush Lotfi-Miri - Research Assistant Michelle Newman - Research Assistant Melanie Knight - PhD Scholar Kavita Praveen - UROP Scholar Ee-ming Wong - Honours Student
Gene Identification & Expression A/Professor Henrik Dahl - Group Leader Dr Michelle de Silva - Postdoctoral Fellow Dr Tuomas Klockars - Postdoctoral Fellow Dr Shehnaaz Manji - Postdoctoral Fellow Dr Lee Parry - Postdoctoral Fellow Dr Kirby Siemering - Postdoctoral Fellow Wendy Hutchison - Scientific Officer Helen Christopoulos - Research Assistant Amelia Osborn - Research Assistant Therese Kelly - Audiologist Brita Singers Sorensen - Visiting Student Michael Hildebrand - Honours Student General Paediatrics Dr Katherine Rowe - Group Leader Joy Birrell - Research Assistant Glenice Cook - Research Assistant Jennifer Michael - Research Assistant Judith Moon - Research Assistant Heather Somerville - Research Assistant Louise Tomlinson - Research Assistant Genetics Education Dr Sylvia Metcalfe - Senior Lecturer Dr MaryAnne Aitken Community Education Fiona Cunningham - Gene CRC Education Director Renee Dow - Gene CRC Education Project Officer Juliette Hooper - Research Assistant Sheri Todd - Research Assistant Anna Flouris - PhD Scholar Alexandra Gason - PhD Scholar Jan Hodgson - PhD Scholar Victoria Hill - Masters Student Eilis Hughes - Masters Student Caroline Lambert - Masters Student Lydia Gaffney - Administrative Assistant Germ Cell Research Dr Sue Hasthorpe - Group Leader Nicole Kerr - Research Assistant Patricia Lusby - Research Assistant Kelly Roeszler - Research Assistant Gut & Liver Disorders A/Professor Tony Catto-Smith - Group Leader A/Professor Julie Bines - Paediatric Hepatologist Dr Ralf Heine - Paediatric Gastroenterologist Dr Mark Oliver - Paediatric Gastroenterologist Dr George Alex - Clinical Research Fellow Dr Humud Al’Hebbi - Clinical Research Fellow
Dr Saukat Begum - Clinical Research Fellow Dr Rezah Ranuh - Clinical Research Fellow Dr Monique Paris - Senior Research Officer Graeme Finlayson - Research Assistant Gaveen Jayarajan - Research Assistant En-Ling Leungki - Research Assistant Naseem Mirbagheri - Research Assistant Sarah Nguyen - Research Assistant Keat Seong Ooi - Research Assistant Misel Trajanovska - Research Assistant Fran Justice - Project Officer Eva Nagy - PhD Scholar Christine Le - Administrative Assistant Anne Peace - Administrative Assistant Gut Motility Dr Bridget Southwell - Group Leader Clare Delaney - Research Assistant Madeleine Stephens - Research Assistant Mark Antonello - Honours Student Mary Southwell - Volunteer
if
r
Heart Research Professor Dan Penny - Group Leader Dr Christian Brizard - Group Leader Dr James Wilkinson - Senior Cardiologist Dr Andrew Davis - Paediatric Cardiologist Professor Sam Menahem - Paediatric Cardiologist Dr Robert Weintraub - Paediatric Cardiologist Dr Lara Shekerdemian - Cardiac Intensivist Jonathon Mynard - IBL Student Lorraine Fitzgerald - Personal Assistant Hormone Research Professor George Werther - Group Leader A/Professor Garry Warne - Senior Endocrinologist A/Professor Leon Bach - Principal Research Fellow Professor Jeffrey Zajac - Principal Research Fellow Dr Karen Greenland - Senior Research Officer Dr Vincenzo Russo - Senior Research Officer Dr Susie Ymer - Senior Research Officer Dr Ciara McDonnell - Research Officer Dr Fergus Cameron - Endocrinologist Dr Margaret Zacharin - Endocrinologist Dr Mark Harris - Research Fellow/Endocrinologist Dr Kisho Kobayashi - Research Fellow Dr Xin Ying - Research Fellow Elena Andaloro - Research Assistant Suzana Metaxas - Research Assistant Debbie Boyce - Research Nurse Tanya O'Byrne - Research Nurse Anne Reilly - Research Nurse
. !
1
Sue Kantor - Radiographer Elizabeth Loughlin - Social Worker Dr Heather Gilbertson - Dietician David Cossens - PhD Scholar Dr Georgia Giannakis - PhD Scholar International Child Health Professor Kim Mulholland - Group Leader Dr Jonathan Carapetis - Senior Medical Researcher Dr Trevor Duke - Paediatrician Dr Fiona Russell - Paediatrician Bernie Beyer - Research Assistant Loraine Kelpie - Research Assistant Susan Rogers - Research Assistant Margie Danchin - PhD Scholar Katherine Gilbert - Administrative Officer Amanda O'Brien - Adminstration Officer Microbiology & Infectious Diseases Professor Roy Robins-Browne - Group Leader Professor Sue Garland - Group Leader A/Professor Paul Johnson - Senior Research Fellow Dr Brian Muller - Senior Research Officer Dr Debbie Baldi - Postdoctoral Fellow Dr Angela Joe - Postdoctoral Fellow Dr Marija Tauschek - Postdoctoral Fellow Louise Adams - Research Assistant Rosemary Alysandratos - Research Assistant Vicki Bennett-Wood - Research Assistant Andrea Bigham - Research Assistant Susie Germano - Research Assistant Frances Oppedisano - Research Assistant Elice Rudland - Research Assistant Matthew Stevens - Research Scientist Victor Wong - Visiting Research Fellow Rebecca Gorrell - PhD Scholar Sarah List - PhD Scholar Danielle Marazzato - PhD Scholar Larissa Nicholls - PhD Scholar Catherine Satzke - PhD Scholar Louise Taylor - PhD Scholar Sharon Tennant - PhD Scholar Steven Greenall - Honours Student Clare Savage - Honours Student Rosalie Maxted - Administration Coordinator Mitochondrial Research Dr David Thorburn - Group Leader Dr Renato Salemi - Postdoctoral Fellow Denise Kirby - Research Officer Taryn Charles - Research Assistant Erin Oldaker - Research Assistant
Ayan Dasvarma - PhD Scholar Voula Mitsakos - PhD Scholar Joost Leenders - Visiting Student Molecular Development A/Professor Andrew Sinclair - Group Leader Dr Craig Smith - RD Wright Fellow Dr Peter McClive - Senior Research Officer Dr Bronwyn Morrish - Senior Research Officer Dr Helen Wilmore - Research Officer Melissa Katz - Research Assistant Quanah Hudson - PhD Scholar Tanya Hurley - PhD Scholar Kirsty Reed - PhD Scholar Mai Sarraj - PhD Scholar Louise Williams - Honours Student Neonatal Research Professor Colin Morley - Group Leader Dr Peter Dargaville - Group Leader Dr Paul Ekert - Principal Research Fellow Dr Peter Davis - Consultant Neonatologist Dr Susan Jacobs - Consultant Neonatologist Dr Omar Kamlin - Research Fellow Dr Colin O'Donnell - Research Fellow Alisa Hawley - Research Assistant Dr Rosalind Lam - Research Assistant Jane Williamson - Research Assistant Brenda Faber - Research Nurse Dr Rod Hunt - PhD Scholar Dr John Mills - PhD Scholar Jacqueline Inder - Personal Assistant Niki Stratis - Personal Assistant Neurosciences Dr Andrew Kornberg - Group Leader Dr Simon Harvey - Group Leader A/Professor Terrie Inder Group Leader Dr Rick Leventer - Group Leader Professor Sam Berkovic - Research Associate A/Professor Graeme Jackson - Research Associate Dr Ingrid Sheffer - Research Associate Dr Lloyd Shield - Senior Neurologist Mark Wellard - Senior Research Officer Dianne Anderson - Research Assistant Jill Bicknell - Research Assistant Magdalena Kita - Research Assistant Dr Mark Mackay - Research Assistant Kelly Steeper - Research Assistant Amanda Wood - Research Assistant Janine Mitchell - IBL Student
Orthopaedics & Gait Analysis Professor Kerr Graham - Group Leader Dr Richard Baker - Gait Analysis Service Manager Roslyn Boyd - Senior Research Physiotherapist Pam Thomason - Research Physiotherapist Eilise Cullis - Research Assistant Pituitary Research Dr Paul Thomas - Group Leader Dr Diana Lepore - Postdoctoral Fellow Dr Shelley Smallacombe - Postdoctoral Fellow Julianne Aloe - Research Assistant Trevor Cameron - Research Assistant Sheridan Cook - Research Assistant Nicola Solomon - PhD Scholar Psychological Development Professor Margot Prior - Group Leader Professor Vicki Anderson - Group Leader Dr Peter Anderson - Research Coordinator Dr Elisabeth Northam - Senior Research Fellow Kathleen Allen - Clinical Research Fellow Julie Barrington - Clinical Research Fellow Dr Lesley Bretherton - Clinical Research Fellow Wendy Bunston - Clinical Research Fellow Brigid Jordan - Clinical Research Fellow Dr Andrew Lewis - Clinical Research Fellow Dr John Mathai - Clinical Research Fellow Maria McCarthy - Clinical Research Fellow Nicole Milburn - Clinical Research Fellow Sue Morse - Clinical Research Fellow A/Professor Campbell Paul - Clinical Research Fellow Ruth Perkins - Clinical Research Fellow Margaret Richardson - Clinical Research Fellow Ruth Wraith - Clinical Research Fellow Jacquie Wrennall - Clinical Research Fellow Dr Cathy Catroppa - Research Officer Dr Amanda Wood - Research Officer Dr Stephen Wood - Research Officer Sebastiana Biondo - Research Assistant Angela Bourne - Research Assistant Elisa Didus - Research Assistant Flora Haritou - Research Assistant Vivienne Howe - Research Assistant Rani Jacobs - Research Assistant Wendy Kelso - Research Assistant Jerome Mailer - Research Assistant Vanessa McKay - Research Assistant Jennifer Neale - Research Assistant Heidi Newitt - Research Assistant Linda Pentland - Research Assistant Angela Pilawski - Research Assistant
Aleksandra Tarnawski - Research Assistant Diana Smidt - PhD Scholar Public Health & Genetics Dr Jane Halliday - Group Leader Veronica Collins - Research Officer/PhD Scholar Dr Sharon Lewis - Research Officer Rosemary Warren - Research Officer Carole Webley - Research Officer Anne Glynn - Research Assistant Vicky Petrou - Research Assistant Alice Jaques - PhD Scholar Wee Thong Neo - Medical Science Student Respiratory Medicine A/Professor Colin Robertson - Group Leader A/Professor Phil Robinson - Physician Dr Ric Roberts - Senior Scientist Dr Anthony Olinsky - Senior Physician Dr John Massie - Physician/PhD Scholar Johanna Kappers - Research Nurse Sally Sheridan - Clinical Trials Nurse Belinda Cerritelli - Research Assistant Nyree Pyper - Research Assistant Mary Roberts - Research Assistant Julie Smith - Research Assistant Jeremy Carr - PhD Scholar Dr Leanne Gauld - PhD Scholar Liam Welsh - PhD Scholar Donna Wheeler - IBL Student Staph & Strep Group Dr Kumar Visvanathan - Group Leader Dr Nigel Curtis - Senior Lecturer & Consultant Travis Gooding - Postdoctoral Fellow Gowri Selvaraj - Research Assistant Narelle Skinner - Research Assistant Dr Christopher Macisaac - PhD Scholar Surgical Research Professor John Hutson - Group Leader Dr Michael Stanton - Research Fellow/PhD Scholar Hideki Tomeyama - Research Fellow Pam Farmer - Research Assistant
ANNUAL REPORT 2002
83
OUR SUPPORTERS
j' I
m
NHMRC Grants Project Grants Julie Bines Gastroenterology & Clinical Nutrition $85,000 Lyndal Bond Adolescent Health $150,000 Suzanne Garland Microbiology & Infectious Diseases $44,000 Sue Hasthorpe Surgical Research $117,000 John Hutson Surgical Research $60,000 Panos loannou Cell & Gene Therapy $85,000 Susan Jacobs Microbiology & Infectious Diseases $118,500 Nicky Kilpatrick Dentistry
$55,000 Colin Morley Neonatal Research $102,500 Ruth Morley Paediatrics, University of Melbourne $42,500 Don Newgreen Embryology
$170,000
FmAit
George Patton Adolescent Health $120,000
Chris Wraight Hormone Research $150,000
David Thorburn Senior Research Fellowship Mitochondrial Research
Dinah Reddihough Child Development & Rehabilitation
Development Grant
Medical Postgraduate Scholarships
L
Andy Choo Chromosome Research $165,000
David Amor
(/>
$22,500 Roy Robins-Browne Microbiology & Infectious Diseases $140,000 Vince Russo Hormone Research $145,000 Bridget Southwell Gastroenterology & Clinical Nutrition $88,001 Bridget Southwell Gastroenterology & Clinical Nutrition $65,000 Paul Thomas Gene Discovery $145,000 Friederike Veit Adolescent Health $73,000 Friederike Veit Adolescent Health $57,640 Melissa Wake Community Child Health $118,051 George Werther Hormone Research $135,000
Oi
ui
Chris Barnes
Q£
Rodney Hunt Career Development Awards Jonathan Carapetis Paediatrics, University of Melbourne Paul Ekert Neonatal Research Jane Halliday Public Health & Genetics Fellowships Andy Choo Senior Research Fellowship Chromosome Research Henrik Dahl Senior Research Fellowship Gene Identification & Expression
Q.
Heidi Peters
a. D
Dora Lush Postgraduate Research Scholarship
Of
Naomi Baker
o
D
Melanie Knight Dental Post Graduate Research Scholarship Sherene Alexander Public Health Medical Research Scholarship Zoe McCallum Jenny Proimos
Cathy Catroppa Australian Training Research Fellowship Psychological Development
Robert Roseby
Paul Lockhart C J Martin Fellowship Gene Discovery
Kylie Hesketh
Johanna Perry Peter Doherty Fellowship Chromosome Research
o
Public Health Research Scholarship
Julie Reid Lyndal Thomas Travelling Scholarship Melanie Knight
Lena Sanci Public Health Fellowship Adolescent Health
ANNUAL REPORT 2002
85
MCRI Internal Grants Part-time Career Grants Orthopaedics & Gait Laboratory
Margaret Danchin Paediatrics, University of Meibourne
Jamie Fitzgerald Ceii & Matrix Biology $50,000
Craig Smith Moiecuiar Development $50,000
Graeme Barnes Enteric Viruses
Beveriey Eidridge Hugh Wiiiiamson Gait Laboratory
Amanda Fosang Ceii & Matrix Bioiogy $50,000
James Buttery Enteric Viruses
Deidre Gartiand Adolescent Health
Asthma, Aliergy & immune Disorders $50,000
Peter Dargaville Neonatal Research
Leanne Gauld Respiratory Medicine
Leanne Gauld Respiratory Medicine $30,000
Paul Thomas Gene Discovery $40,000
Peter Davis Neonatal Research
Alissa Urn Paediatrics
John Hutson Surgical Research
Eva Nagy Gastroenterology & Clinical Nutrition
Richard Leventer Neurosciences
Diana Smidts Psychological Development
John Massie Respiratory Medicine
Michael Stanton Surgical Research
Roslyn Boyd
Paul Monagle Cancer Biology, Therapies & Trials
Michele Su-Ming Yeo Adolescent Health
Mimi Tang
Project Grants
Asthma, Allergy & Immune Disorders George Werther Hormone Research Trainee Research Scholarships Catherine Bauld Adolescent Health
Vicki Anderson Psychological Development $30,000 Ruth Bishop Gastroenterology & Clinical Nutrition $50,000 Paul Ekert Neonatal Research $20,000
Sue Hasthrope Surgical Research $50,000 Shireen Lamande Cell & Matrix Biology $50,000 Richard Leventer Neurosciences $20,000 Sheena Reilly Speech Pathology $30,000 Roy Robins-Browne Microbiology & Infectious Diseases $50,000 Jeffrey Rosenfeld Psychological Development $30,000 Andrew Sinclair Molecular Development $50,000
Mimi Tang
Theme Grants John Bateman, Ravi Savariayan Bone dysplasia program $150,000 per annum for 2001-2003 Howard Slater, Sharon Keeling, Andy Choo High resolution chromosome analysis using DNA microarray and CGH $150,000 per annum for 2001-2003 George Patton, Susan Forrest, Craig Olsson Genetic and environmental determinants of psychosocial disorders in youth $150,000 per annum for 2001-2003 Dinah Reddihough, Shaun Brennecke, Kerr Graham, Jane Halliday, Sheena Reilly Victorian cerebral palsy project $150,000 per annum for 2001-2003 Andrew Sinclair, Garry Warne, John Hutson, Julian Savulescu, Sylvia Metcalfe Disorders of sexual development $150,000 per annum for 2001-2003 II
r 86 ^ ANNUAL REPORT 2002
1
Externa AM RAD Nicola Solomon Pituitary Disease & Development Travel Scholarship $1,500
Grants Australian Research Council Julian Savulescu Ethics $40,000
Department of Health and Aged Care Graeme Barnes Enteric Viruses $33,950
Bethlehem Griffiths Research Eoundation Panos loannou Cell & Gene Therapy $50,000
Department of Health and Aged Care Elizabeth Waters Community Child Health $43,489
Beyond Blue Sara Glover Adolescent Health $272,493
Department of Human Services Paul Johnson Microbiology & Infectious Diseases $76,191
Brockhoff Eoundation Panos loannou Cell & Gene Therapy $250,000
Department of Human Services Carl Kirkwood Enteric Viruses $29,780
Department of Community Services, NSW Sheena Reilly Speech Pathology $50,000
Department of Human Services Melissa Wake Community Child Health $78,402
Australian Drug Foundation/DHS George Patton Adolescent Health $9,000
Department of Family and Community Services June McLoughlin Community Child Health $218,909
Department of Human Services Melissa Wake
Ausindustry Andy Choo Chromosome Research $250,000
Department of Health and Aged Care Tony Catto-Smith Gastroenterology & Clinical Nutrition $57,226
Australian Research Council Beth Dunn Music Therapy $65,000
Department of Health and Aged Care George Patton Adolescent Health $30,000
Anadis Pty Ltd Rebecca Gorrell Microbiology & Infectious Diseases $34,000 ANZ Trustees Dan Penny Heart Research $7,500 ANZ Trustees Carl Kirkwood Enteric Viruses $7,500 Arthritis Eoundation Chris Poon Cell & Matrix Biology $17,000
Community Child Health $85,000 Department of Human Services Susan Sawyer Adolescent Health $184,201 Foundation for the Childrens Oncology Group (USA) David Ashley Cancer Research $65,880
Garnett Passe and Rodney Williams Memorial Eoundation Henrik Dahl Gene Identification & Expression $68,389 Of lU
Gastroenterological Society of Australia Carl Kirkwood Enteric Viruses $55,000
0£
o a.
o.
D
(/)
GlaxoSmithKline Graeme Barnes
a
D
Gastroenterology & Clinical Nutrition $73,000
o
Juvenile Diabetes Eoundation (USA) George Werther Hormone Research $85,000 Muscular Dystrophy Association (USA) David Thorburn Mitochondrial Research $104,600 Muscular Dystrophy Association/Friedreich Ataxia Research Alliance (USA) Panos loannou Cell & Gene Therapy $90,000 Muscular Dystrophy Association (USA) Henrik Dahl Gene Identification & Expression $110,000
ANNUAL REPORT 2002
87
National Ataxia Foundation Panos loannou Cell & Gene Therapy $30,400
Perpetual Trustees Susan Sawyer Adolescent Health $40,000
Rotary Inner Wheel Ngaire Elwood Cancer Biology, Therapies & Trials $42,000
VicHealth Elizabeth Waters Community Child Health $120,000
National Heart Foundation Melissa Wake Community Child Health $36,880
Perpetual Trustees (R G Arnott Foundation) Catherine Marraffa Child Development & Rehabilitation $19,733
Sunshine Foundation Dinah Reddihough Child Development & Rehabilitation $4,000
VicHealth Elizabeth Waters Community Child Health $48,439
National Institutes of Health (USA) John Toumbourou Adolescent Health $297,054
Pfizer Dan Penny Heart Research $111,000
Telstra Foundation Elizabeth Waters Community Child Health $50,000
Victorian Trauma Foundation Clara McCarthy Emergency Medicine $36,000
National Institutes of Health (USA) Henrik Dahl/Melissa Wake Gene Identification & Expression/Community Child Health $348,715
Pratt Foundation Joanne Smart Asthma, Allergy & Immune Disorders $10,000
University of Melbourne - Fellowship Ngaire Elwood Cancer Biology, Therapies & Trials $37,000
Wellcome Trust - Equipment John Bateman Cell & Matrix Biology $788,957
R E Ross Trust Dinah Reddihough Child Development & Rehabilitation $15,000
VicHealth George Patton Adolescent Health $100,000
William Buckland Foundation (ANZ Trusts) Harriet Hiscock
Ramaciotti Foundation Ruth Morley Paediatrics, University of Melbourne $15,000
VicHealth George Patton Adolescent Health $300,000
World Health Organization Julie Bines Gastroenterology & Clinical Nutrition $79,267
Ramaciotti Foundation Peter Farlie Embryology $15,000
VicHealth George Patton Adolescent Health $100,000
Rebecca Cooper Medical Research Foundation John Bateman Cell & Matrix Biology $12,500
VicHealth Elizabeth Waters Community Child Health $20,000
World Health Organization & Saving Newborn Lives John Carlin Clinical Epidemiology & Biostatistics $19,850
Novo Nordisk Pharmaceuticals Pty Ltd Jhaike Braham Hormone Research $70,000 Oxford Matrices (UK) Richard Baker Orthopaedics & Gait Laboratory $48,900 Perpetual Trustees Agnes Bankier Genetic Health Services Victoria $100,000 Perpetual Trustees Dan Penny Heart Research $20,000
88 H ANNUAL REPORT 2002
Community Child Health $16,376
l'
Donations Thank you to all our generous donors... Alltab Australia Amersham Biosciences William Angliss Charitable Fund Annamila Pty Ltd Pierce Armstrong Foundation Ronald Geoffrey Arnott Foundation AstraZeneca Aus Bio Limited Ballarat Grammar L & L Barbieri Mrs Hugh Beggs Katherine Behrend Bell Charitable Fund John Bennie Alfred Berkley Beta Sigma Phi Vic Inc Mr Richard Bouchier R A Bray Jack Brockhoff Foundation I Hill Brown Charitable Trust Mr & Mrs R J Brown Diana Browne Trust William Buckland Foundation Hans Bufe Mr & Mrs John & Janet Calvert-Jones Carolyn Cameron George Castan Family Richard M Charlton Winnie & Wilson Chong Citrina Foundation Manfred Claasz J Clairs Mrs Helen Collis Jo-Anne Cooper Rebecca L Cooper Medical Research Foundation H P Creswick CSIRO Charity Fund Mrs R Cunningham
The Dara Foundation DBM Consultants Pty Ltd Mrs K Derham-Moore Wendy Drummond Uday Dube Elizabeth Duffield Embelton & Co Mrs D Farfor Alfred Felton Bequest Marian & E H Flack Trust Forrester's Friendly Society Friedreichs Ataxia Association Jean E Fuller Funtastic Mrs Neilma Gantner Mrs Bernard Gilligan P R Ginneasen Gotta Get A Life Foundation Louise Gourlay GP Education Australia Rosemary A C Griffith Bethlehem Griffiths Research Foundation G Grimwade Z & C Gurrisi Maurice Hall Mrs E R Ham Colin Harris John D & Lyla Harris Charitable Foundation Geoffrey E Heeley E Herman Charitable Trust Geoff Holland Jessica Hopley Inner Wheel Australia Dr Mervyn Jacobson John's Juicy Meat Supply Ken Duncan Australia Wide Kids Cancer Foundation Mrs Dorothy Kimberley
Kimberley Foundation Mrs Sheila Kimpton Ingrid King J & Hope Knell Trust Kraus Charitable Foundation
Colleen & Peter Phillips Plenty Parklands Primary School Pratt Foundation Premier Developments Promotions Factory
The Limb Family Mr & Mrs J K Little UCB Investments Loreto Mandeville Hall Lowther Hall
Qantas Airways Ltd Quantum Market Research
H & C MacMillan A Maharaj Mapico Constructions Marin Accountants Dame Patricia Mackinnon MDA-Seek a Miracle Medical Alumni Association MI7 Spencer Millear The Miller Foundation ’ LR & RW Mills Mr Montebello Karyn Moffatt Suzane Morgan Elizabeth Morris Mr Russell Morrison Marie Morton Dame Elisabeth Murdoch My Room Incorporated Kylie Napier-Colville Mrs Nita Needs Les & Helen Newman Alasdair Norton Novo Nordisk Pharmaceuticals Pty Ltd Sarah O'Hare Paediatric Research Society Pietro Papantuono Vic Parsons (Rotary) Rowly & Judy Paterson Penleigh & Essendon Grammar
Anita & Uwe Radok RCH Cardiology Department RCH Health Information Services Mrs Diana Renard Rentamobile Pty Ltd The R E Ross Trust Rotary Club of Balwyn Rotary Club of Camberwell Rotary Club of Chadstone Rotary Club of Footscray Rotary Club of Glen Waverley Rotary Inner Wheel Mrs Roxburgh R E Ross Trust RSL Club of Corowa George Scott Mrs Wendy Seward Mrs Donne Simpson Mrs Susan Sims Mr Kirpal Singh Neil Spitzer Grant Stephenson St Monicas College - 8 Silver Gillian Storey Sunshine Foundation Lyra Taylor Fund Telstra Foundation Templestowe Valley Primary School Thiess Pty Ltd M L Thompson The A W Tyree Foundation Uncle Bobs Club
ANNUAL REPORT 2002
89
Vermont Secondary College Victorian Preceptor PSI J B Were & Son Charitable Foundation Wesley College WB & MJ White Windmill Educational Michele Winsor Dorothy Wright
In memory of Alfonsina Scibilia C & M Barbagallo G & M Bellissomo Montanari-Rizzo Cathy Scibilia John Scibilia Alf & Sina Zampogna In memory of Owen Brokensha
Estates Estate of Herbert J Allen Estate of Hazel Rita Andrews Estate of Maria Brooke-Ward Estate of Lorna E. County Estate of N E Creaton Estate of Ruth Madigan Estate of Agnes Tait Robertson
RACV Club In memory of Nicholas Martin Valerie A Walsh In memory of Bill Scantlebury Presutto Eamily
In memory of Emma Richie
In memory of Nieve Angus
Robyna Calisthenic College
V Erisina Mr & Mrs R Gall! G & D Germano V Leuzzi R Maglio Alfonso Perrone V Rischitelli Elizabeth Tobias
In memory of Dr J Fraillon Mrs Janet Bayliss Mr D Beach Klaudia Hochhuth Mr Peter Strasser Dr Elizabeth Xipell In memory of Coco Nichols Mrs Patricia V Einnane In memory of Thomas Allen Mount Compass Area School In memory of Ashne Gardiner Rob Bingham Wendy Cant Lisa Wright
90 ^ ANNUAL REPORT 2002
In memory of Kylie Anne Jacobs Lorraine Anderson Tony Barron Dawn Chaplin & Eamily RSL Club of Corowa Ken & Liz Eilcock Euneral Directors Perry Eamily Rotary Club of Corowa Centre for Hormone Research Donations American Australian Association Aust-lsrael Chamber of Co Baker-Johnson
Vivienne & Harry Beck BMW Malcolm J Bray Paul Brotchie A R & J C Burg Michael Di Michele Mr Michael Hirsch Kerrie Hunter Jetset North Balwyn Mrs Rose Kling Mrs Gertrud Lo Mrs Lotte Marc Lorraine Nash Novo Nordisk Barry Novy W G Smith Swisse Vitamins Tattersalls Holdings MI7 - Donations Amanda Balse The Calvert-Jones Eoundation Carolyn Cameron D & J Catanach Credit Suisse First Boston N R & J M Fish Phillip Goodman A G & L M Highet Middleton Services Dame Elisabeth Murdoch Yaffa Ball - Donations T & J Molan The Bruce Lefroy Centre for Genetic Heath Research - Donations Jocelyn & Charles Allen Margaret & Edward Billson Mr & Mrs W Bisley Mr & Mrs E Broome Trish & Ben Cohen Chris & John Collingwood
D R Creswell Mrs Judith Deakin Harley DJ & Ml Draffin Mr & Mrs Gordon A & DC Grace Vanessa Griffith Dr & Mrs P Hardy-Smith Barbara Haynes Rob & Ro Hyde David Jenkins Julie & Bryan Kelly Frances Lefroy Winifred Lefroy Professor & Mrs Lim Pin J Lovegrove NJ & LM MacPherson Mr & Mrs Meagher David & Glenys Monotti Robert O'Neill Adrian Quilter Sam Riggall Dr & Mrs Ritchie Annette Roberts Stan & Margaret Sahhar Sir Ninian & Lady Stephen RL & CL Travers Helen & Bernard Wheelan Noel & Lynette Waite Margaret & Peter Wong The Zekiman family Genetic Health Services Victoria Donations Akrow Pty Ltd Besen Eamily Judy Dodge The Gandel Charitable Eund Inkerman Panels Mark Leibler Jack & Robert Smorgon Families Foundation J P Steg
\
■
i
Fa / •(*{(;
David Morris D^ame Elisabeth Murdoch AC DBE
Henry Rekaris (until April 2002) Raoul Salter
Carrie Beetham
Mandy Yenken
Blain Beetham
Sarah O'Hare
m
Steve Beetham Varlli Beetham
BE
JiY
m
iy
Claire Cattanach
l!,S
David Calvert-Jones
Tamara Curran
Edwina Le Maistre
Karina Calvert-Jones
Prue Lewis
Narelle Curtis
Leith Richards
Sarah O'Hare
Elli Cattanach
Phllipp'^Fim^"
Jane Fenton - Chairman
Jacqui Dixon Lizzie Gibson Sallie Hammond
Debbie Thomas
B
Katrina Read
Linda Wachtel
Sam Patterson
Michael Seeley
Mandy Yenken
rm
1
David Galbally QC - Chairman
4 1
m# I,
1-
Philippa Finney
Louise Calvert-Jones
Julia Fraser
Jacqui Clark
Adrian King
Mandy Fish
David Kolieb
Amanda Hall
LiJ A;
Sue Michelmore L
rpws Custom Publishing iis-=
Dalton Fine Paper
Southern Colour
Narelle Curtis Kate Longton
.Vi
•j
Michelle Goldstein Gabrielle Di Pietro
J
i
■Vv'?;:
SI1
'^ISlili If
mmmm m
fill S:f I
SliiiiliS lUfSsiiSiS IS liilSiii ■If
«ii«i r
a