Issuu

Summer 2018

A Newsletter for the Friends of the Center

NIH grant advances GGC’s work on autism blood test through collaboration

e WherCOMPASSION p.

GGC develops roadmap for rare disease treatment research

INSPIRES p.

Outreach education brings hands-on activities to record number of students

PROGRESS p.

Diagnostic Labs offer ‘QUICK’ diagnosis for patients

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SC GOVERNOR HENRY McMASTER TOURS GGC economic development plans through the growth of the GGC Partnership Campus.

outh Carolina Governor Henry McMaster visited GGC’s Greenwood campus on Friday, June 1 to tour the Center and learn more about what GGC’s services mean to the citizens of SC, as well as how the work has a national and global reach. Gov. McMaster was welcomed for the walking tour by GGC Director, Dr. Steve Skinner, along with other faculty and staff members, as well as board members and other GGC supporters. In the course of his visit, Dr. Skinner led Gov. McMaster through the Center’s Greenwood clinic, diagnostic labs, and onto the Gene Machine mobile science lab (pictured above with Dr. Leta Tribble, Director of Education). The governor also learned about GGC’s research programs including work to develop an autism blood test and past successes with birth defect prevention. Skinner also discussed GGC’s partnership with Clemson University and the

“We have been fortunate to have long term support for our work from our state’s government,” said Skinner. “Our legislative delegation and partners at the SC Department of Disabilities and Special Needs see the tremendous value in GGC’s highquality genetics services for those impacted by genetic disorders, as well as in our prevention and treatment programs that save SC millions of dollars each year. We are pleased to have the opportunity to provide Gov. McMaster with a first-hand look at how our employees are positively impacting lives every day.” Following the tour, the governor addressed employees gathered outside the Treatment Center acknowledging that GGC was a special place and offering to assist in doing what he could to advance the mission and increase GGC’s impact and influence. “You are a diamond in the rough,” said McMaster. “Not even in the rough, you are already shining - doing amazing things, we just need to do what we can to help support your work.” Governor McMaster addresses employees following his tour as Barb DuPont, PhD, Mike Friez, PhD, Skinner, and Luigi Boccuto, MD, look on.

MOU signed for GGC Partnership Campus The GGC Foundation has signed a memorandum of understanding (MOU) with the Greenwood Partnership Alliance to market the Greenwood Genetic Center Partnership Campus to the life sciences community. The MOU defines how the Greenwood Partnership Alliance will help to market and develop the local cluster for technologies related to human and medical genetics, biotechnology, life science enterprises, and related operations. The strategic plan for the GGC Partnership Campus provides an intentional framework for transforming the property owned by the Foundation into a dynamic, harmonious environment - one that serves as both an anchor of Greenwood’s emerging Medical Innovation District, and also a vital, connected hub within the broader Greenwood community. The plan calls for the campus to become the location of choice for organizations seeking a quality-of-life environment and businesses focused on promoting collaboration. The campus currently includes The Upper Savannah Council of Governments, Carolina Health Center’s Children’s Center, and the Clemson Center for Human Genetics’ Self Regional Hall. “We are thrilled with this major step forward in the development of our Partnership Campus vision,” said GGC Director, Dr. Steve Skinner. “The excellent achievements in economic development by the Greenwood Partnership Alliance promise to lead to even more growth in our local community. We look forward to a fruitful partnership.” Photo (clockwise from top left) Kristen Manske, DPT, Board Chair of the Greenwood Partnership Alliance; Boo Ramage, Special Assistant to the Director at GGC; Heather Simmons-Jones, CEO of the Greenwood Partnership Alliance, and Skinner

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TWO JOIN GGC BOARD OF DIRECTORS The GGC Board of Directors welcomed two new members, David Fleming, PhD and Chris Przirembel, PhD, at their quarterly meeting in March. Dr. Fleming (far left) is Associate Dean for the Clemson University Graduate School. He earned a PhD from the College of Education at the University of South Carolina and has held faculty positions at both the University of Florida and Clemson University. Dr. Przirembel is President of Przirembel Innovations, LLC, a consulting firm specializing in innovation, strategic planning, economic development and publicprivate partnerships. He earned a PhD in Mechanical and Aerospace Engineering from Rutgers University and recently served as Vice President for Research and Economic Development at Clemson University.

THANKS FOR YOUR SERVICE! The GGC Board of Directors recognized George “Bal” Ballentine, Jr. and John McAlhany, PhD for their service to the Center upon their retirement from the Board. Ballentine (far left), President of Ballentine Ford-Lincoln and Ballentine Toyota dealerships in Greenwood, joined the GGC Board in 2009. He has served on the Board’s finance and personnel committees. Dr. McAlhany (center), a financial manager retired from Greenwood Capital Associates, joined the board in 1991. In 2015, he and his wife, Norma, established The McAlhany Family Center for Collaborative Research at GGC which fosters research partnerships and provides space for emerging technologies. McAlhany departs the Board as the current vice chair and secretary, and as a member of the finance and building committees. He has also been named Director Emeritus.

ADDITIONS TO THE GGC TEAM Dawn Puderbaugh Hodges joined GGC as Administrator in March. She will oversee the day-to-day financial, human resources and facilities operations, as well as attend to compliance matters of the Center. She assumes the role from Boo Ramage who has moved into the position of Special Assistant to the Director. Hodges earned a law degree and Master of Social Work from the University of Kansas. Kevin Farren is GGC’s new Director of Data Integration and Management. He works with all divisions of the Center to develop strategies to connect and efficiently utilize GGC’s various data systems. Farren holds a Computer Engineering degree from Mississippi State University and has 18 years of experience at Intel Corporation, most recently as a Lead Project Manager.

A WHOLE NEW LOOK GGC’s web presence has a new look. The Center’s Communications and Marketing team unveiled its newly-designed website in early May for both the Center and the GGC Foundation. The new site not only provides an updated look, but includes additional features such as patient testimonials and a redesigned search engine for the Greenwood Diagnostic Labs, as well as new content for patients, families and referring providers. The site is also mobile-friendly for all devices and incorporates GGC’s blog, the Gene Scene, as well as Center news, a video library, and virtual tour. Visit www.GGC.org and explore.

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A NEW APPROACH TO RARE DISEASES

GGC organizes ‘Polyamigos’ workshop The Polyamigos : Seated L-R: Charles Schwartz, PhD, GGC; Teri Koerner, Snyder-Robinson Foundation; Mary Jo Kutler, Snyder-Robinson Foundation; Angela Peron, MD, University of Milan; and Bob Casero, PhD, Johns Hopkins School of Medicine. Standing L-R: Aamir Zuberi, PhD, The Jackson Laboratory; Michael Raymond, Snyder-Robinson Foundation; Tony Pegg, PhD, Penn State University School of Medicine; Colin Nichols, PhD, Washington University; Garce Zhai, PhD, University of Miami Miller School of Medicine; Otto Phansteil, PhD, University of Central Florida; Chong Li, University of Miami Miller School of Medicine; Gene Gerner, PhD, Cancer Prevention Pharmaceuticals; Andre Bachmann, PhD, Michigan State University; and Roger Stevenson, MD, GGC. Not pictured: Mark Burns, PhD, Aminex Therapeutics, Inc.

NEW AUTISM COLLABORATION GGC has signed a research agreement to collaborate with Swiss biotechnology company, STALICLA, on personalized approaches to treating autism spectrum disorder (ASD). STALICLA has developed an algorithm platform based on big data to bring precision medicine to subtypes of individuals with ASD. Lynn Durham, CEO of the Geneva-based company learned about GGC’s similar approach to ASD through a 2017 TEDx Greenville talk given by Luigi Boccuto, MD, Assistant Research Scientist at GGC’s JC Self Research Institute. Through the brief talk she recognized an alignment between GGC’s approach to ASD and the philosophy of her organization. “STALICLA’s model has the potential to revolutionize the way we think about treating ASD,” said Boccuto, who was named Chief Scientific Officer for STALICLA. “The innovative characterization of patients will act as a catalyst to change research approaches for the treatment of ASD and potentially other neurodevelopmental disorders.” The collaborators are recruiting new patients and collecting clinical information from the individuals currently in their cohorts. GGC is already employing novel technologies to expand the understanding of the etiology and mechanism of ASD. “GGC’s cohorts will be incorporated into future clinical trials to generate data in support of STALICLA’s STP1 therapy which is poised to show disease-modifying effects in approximately 15% of the ASD patient population,” said Boccuto. GGC anticipates being the first clinical site for randomized control trials for STP1.

John Gallagher

loved baseball, especially the Minnesota Twins. He was a whiz with technology, an avid bowler, and a passionate supporter of veterans. He also advocated for those with disabilities, meeting with state senators and legislators. He did so because he was affected with a rare genetic disorder himself, Snyder-Robinson syndrome. John’s family was the first to be identified with this ultra-rare disorder in 1969, when John was just 10 years old. To date, only 50 individuals worldwide have been diagnosed with Snyder-Robinson syndrome. Snyder-Robinson syndrome (SRS) is a rare genetic disorder, affecting only males, that causes intellectual disability, muscle and bone abnormalities, and distinctive facial features such as cleft palate, a prominent lower lip, and asymmetry of the face. Affected individuals can also have seizures and kidney issues. In 2003, researchers, led by GGC’s Dr. Charles Schwartz, identified the gene responsible for SRS. Since then, GGC has become the leading center for the study of the disorder. The SRS gene produces an enzyme called spermine synthase. If the gene is altered and the enzyme is deficient, there will be a lack of a polyamine compound called spermine in cells. Polyamines, like spermine, are vital for the normal development and function of the brain and other body tissues. As the understanding of the basis of this rare disease has emerged, scientists

are now focused on treating the condition. In December 2017, GGC convened and hosted a workshop in Greenwood, SC in association with the SnyderRobinson Foundation. Participants in the workshop included nationallyrecognized basic scientists, physicians who work with patients with SRS, representatives of companies interested in developing therapeutics, and leaders from the SRS Foundation representing the interests of families. The group, referred to as the ‘Polyamigos’, for their expertise in polyamines and dedication to collaboration, discussed how to advance research and explored several avenues for the treatment of SRS. “We are looking at multiple treatment options including utilization of a drug with a structure similar to spermine or a better way to deliver spermine into the cells,” said Schwartz. “We also discussed the potential for gene therapy to provide the normal enzyme to the cells, as well as reviewed data that indicates the possibility of using certain drugs that, although they won’t cure SRS, may help ameliorate some of the symptoms.” Michael Raymond was one of the workshop participants. Raymond is the Executive Director of the SnyderRobinson Syndrome Foundation and father to a 10-year-old son with SRS. “My son, Connor, was diagnosed with SRS at age 5 after an exhausting search for answers. He was evaluated by countless doctors, including at least eight geneticists at four institutions before his mutation was identified,”

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Researchers plan to examine the donated organs through a lab at Michigan State University to better understand how spermine deficiency affects each tissue. “John lived his life full of faith, hope, and charity to all,” said his brother, Daniel Gallagher. “His life touched all those who knew him, and now, with this gift, he will continue to touch lives for generations to come.”

John Gallagher - Photo courtesy of the Gallagher family

said Raymond. Connor’s mother, Katia Luedtke, who serves as the Legal Counsel and Secretary for the SRS Foundation, shared, “Not knowing what your child suffers from is, I believe, more painful than finding out that he has an ultra-rare genetic syndrome for which there is no cure. We now have something to focus on to be able to help our son.” At the workshop, John Gallagher, who passed away in October at the age of 58, was honored, and it was shared that his final wish was to donate his organs to research to help others including his affected brothers and nephews.

Luedtke echoed those sentiments, “Words seem insufficient to adequately capture the magnitude of the gift John gave to SRS research. His legacy is a great one and we will do our best to honor his memory with our efforts to find a cure or treatment for SRS.”

of SRS and other rare syndromes.” With the collaborative spirit of the Polyamigos and the generosity of John Gallagher and his family, Connor’s family has found a renewed hope. “The ability to gather such brilliant scientists, doctors and researchers together to brainstorm with their collective knowledge is unprecedented in the rare disease world,” said Luedtke. “When your child’s rare disease is 1:150,000,000, it is truly astounding that this event came together with such promising results.”

The workshop concluded with a renewed effort for the group to collaborate and pursue various funding opportunities in order to move forward with treatment approaches “This was a unique opportunity for those of us in this area of study to gather and focus intently on our ultimate goal and how we can best get there,” said Schwartz. “Through our work we have also created a roadmap of how a small group of scientists and stakeholders, focused on a single syndrome, can advance the treatment

Connor Raymond (second from right) with his parents, Michael Raymond and Katia Luedtke, brother, and sister. Photo courtesy of the Raymond family

NIH FUNDS AUTISM TEST WORK

The National Institute of Mental Health (NIMH), part of the National Institutes of Health (NIH), has awarded a two-year, $779,000 Phase 1 Small Business Technology Transfer (STTR) grant to Circa Bioscience, LLC based at GGC’s McAlhany Family Center for Collaborative Research. The grant will fund research and development activities focused on the translation of GGC’s research on autism spectrum disorder (ASD) into a clinically available blood screening test. In 2013, GGC researchers, led by Luigi Boccuto, MD (pictured on cover), discovered that cultured cells from individuals with ASD displayed reduced metabolic activity when tryptophan, an amino acid, was the only available energy source. “Using this assay, we were able to correctly identify 92% of individuals with ASD, with even better performance in the younger individuals we were targeting,” shared Boccuto. “This provided strong evidence that we could potentially screen for ASD risk using a biochemical blood test.” Currently, an ASD diagnosis can only be achieved through clinical observation and parent questionnaires, and only after features develop. The Centers for Disease Control and Prevention released updated statistics this spring indicating that 1 in 59 children in the US is diagnosed with ASD, up from 1 in 68 reported in 2016. “Cell lines, as used by GGC, require significant time and resources to create and maintain,” said Kevin Champaigne, PhD, founder and CEO of Circa Bioscience. “The focus of our work will be to translate GGC’s findings via patient cell lines into a test that can be performed on a simple blood sample.” An early diagnosis for a child with ASD allows for earlier therapeutic intervention, which can lead to improved behavioral outcomes. The work has also led the team to consider potential treatments that could change the course of the diagnosis. “We are hopeful that this understanding of the biochemical changes in individuals with ASD will guide us to effective treatment strategies,” said Boccuto. “We are very excited for the opportunity to collaborate with the GGC to develop a widely-available screening test to help children and families achieve an earlier diagnosis with the potential of improved outcomes,” said Champaigne. “And we are all indebted to the many families who have participated in GGC’s autism research over the years for helping us reach this pivotal point.” Initial collaborative work between Champaigne and Boccuto’s lab was funded through a three-year Self Regional Healthcare Foundation grant.

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The Diagnostic Odyssey

MAKING A ‘QUICK’ DIAGNOSIS

• There are 7,000 rare diseases affecting over 25 million Americans (that’s nearly 1 in 10 people). • Patients see an average of 8 physicians in the search for a diagnosis. • Patients receive an average of 3 misdiagnoses in the process. • It takes an average of 7.6 years to get to an accurate diagnosis. *Shire HGT: Rare Disease Impact report, 2013

genes in the human genome is the prime target and where to begin with testing.

known clinically-relevant genes, whole exome sequencing is available.

With the technological advances in recent years, there are more genetic testing options than ever to help end those diagnostic odysseys, and that testing is generating large amounts of data. The challenge is sorting through seemingly endless data to arrive at the correct answer. And for clinicians, the vast and changing landscape of testing makes it difficult to know which of the 22,000

Ordering clinicians have several options of testing to identify their patient’s causative mutation. If they are confident in the cause, they may request analysis of a single gene. If they have a longer list of possibilities, they can request a focused Next Generation Sequencing (NGS) panel, which is a custom list of genes that they put together. Greenwood Diagnostic Labs also offer preselected panels of genes, a carefully curated list of genes for a specific category of disease, such as syndromic autism or seizure disorders. Or if the clinician wants to look at all of the

GGC’s NGS methodology allows all of this testing to be performed on a common “exome backbone.” This means that whether a clinician requests a test for a single gene, or for a panel of a few genes, GGC’s lab actually generates data on the coding regions of all 22,000 genes. However, bioinformatic analysts restrict their interpretation to only the genes that were ordered.

iagnostic odyssey - it’s a term that describes the long, difficult, and frustrating journey that many patients with a rare disease experience in their search for answers.

While this may seem like extra work, it actually provides a great benefit to both the clinician and the patient. By storing

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that unanalyzed data, the lab is able to go back to it, months or even years later, and reanalyze it to look for changes in different genes that were poorly understood when the test was first completed. All of this without having to obtain another blood sample or repeat the benchwork.

Recently, GGC’s Diagnostic Labs have been offering a free service called QUICK Analysis. QUICK stands for “Quickly Uncovering Important Clinical Knowledge,” and is designed to provide additional information at no additional cost when the analysis of genes that were initially ordered doesn’t provide the diagnosis.

“The QUICK Analysis allows us to use our computer software to rapidly identify causative variants in additional genes that, although they weren’t initially ordered, could explain the patient’s clinical picture,” said Julie Jones, PhD, Director of GGC’s Clinical Genomic Sequencing Program. Jones presented a webinar in late May, sponsored by Agilent Technologies, to discuss the approach to diagnosis and benefits of the QUICK analysis for clinicians who use GGC’s Molecular Diagnostic Laboratory. “Our goal with the QUICK Analysis is to provide an extra layer of data review to assist the clinicians and ultimately get these patients to an answer as soon as possible,” shared Mike Friez, PhD, Director of Greenwood Diagnostic Labs. “With the amount of genomic information that comes out on a daily basis, this extra analysis gives clinicians the confidence that we are doing everything possible to get to an answer, even if it’s in a gene they hadn’t considered.” GGC has found success in identifying these genetic changes in numerous patients. In the first year of implementing the QUICK Analysis, GGC identified a causative genetic mutation in 34 of 169 cases for an overall diagnostic yield of 20%. That number rises to 50% for some of the lab’s preselected panels, including X-linked intellectual disability conditions, neuromuscular disorders, and lysosomal disorders. “That’s 34 patients over the span of just a single year for whom a diagnosis has been found, simply by increasing the amount of time spent on data analysis by 10 to 20 minutes per patient,” said Jones. “Achieving an accurate diagnosis is an essential step in the care of our patients,” shared Steve Skinner, MD, GGC Director and Senior Clinical Geneticist. “Before that diagnosis is made, we are only managing symptoms. However, once we know the gene responsible, we can uncover the mechanism of disease and move toward providing better ways of treating the patient’s underlying condition, not to mention allowing them access to clinical trials, accurate recurrence risk counseling, and connection with other families with the same diagnosis.”

LAB NOTES As part of expanding marketing activities, the labs have undergone a rebranding as Greenwood Diagnostic Labs. “The new name and separate, but similar logo (above), will help identify the labs as an important part of GGC while at the same time distinguishing our labs for our customers,” said GGC Laboratory Counselor, Kellie Walden, MS, CGC. “We are widely known in the genetics community as ‘Greenwood’, so this new branding will better identify our laboratories to this target audience of referring physicians, genetic counselors, and healthcare providers who order genetic testing.”

In May, the Molecular Diagnostic Laboratory welcomed back Ray Louie, PhD as Assistant Director. Dr. Louie completed a Clinical Molecular Fellowship at GGC in 2016 and worked as a Clinical Molecular Specialist for the Center before leaving to pursue an opportunity at a commercial laboratory. “We are thrilled to have Dr. Louie, a very talented diagnostician, back as part of our team,” said Molecular Lab Lead Director, Jennifer Lee, PhD. “GGC has always felt like home,” said Louie. “I’m pleased to be back, working with the faculty who taught me so much and in an environment where quality patient care is the most important priority.”

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CINCO DE MAKAYLA

AND MORE GGC FOUNDATION NEWS

T he 2nd annual Race the Helix Lowcountry was celebrated on May 5th at Wannamaker County Park in North Charleston.

Since the race fell on Cinco de Mayo, the event had an extra special party atmosphere with a celebration of our hosts, Makayla Gunn and her family. Makayla, 5, (pictured right with GGC Director Dr. Steve Skinner and her father, Hollis) was diagnosed with Rett syndrome through GGC’s Charleston office at age 2 and has been followed by the Center ever since. Nearly 150 runners, walkers, and volunteers turned out to make the Lowcountry race a great success again this year! The 4th annual Race the Helix - Upstate was also held this spring at Lake Conestee Nature Park in Greenville on March 24. With the addition of a very successful raffle and the support of over a hundred volunteers and participants, this event was a fun and fruitful way to support the mission of GGC as well as gain new friends and supporters. We once again welcomed the wonderful Connor family as our event hosts. On May 17, GGC Foundation Board Member Sharlene Greene and her husband, Richard (pictured below with Dr. Steve Skinner), welcomed dozens of Double Helix Society members to their exquisite home for ‘An Evening in the Orient’ reception. This special group of annual donors were treated to a

Japanese-style buffet and an update from Skinner on how the GGC Foundation supports the mission of the Center. GGC employees and Foundation volunteers are also busy planning events for Gene Week 2018. The week will kick off on Saturday, September 29th with the 5th annual Jammin’ for Genes BBQ and Music Lawn Festival. The event will be held from 6-8pm with music from Greenwood’s own Bad Weather States, great food and drink, a silent auction, antique car show and lots more for the entire family. The ‘Through Our Eyes’ art show will also be back at the Jammin’ for Genes event. If your child is a GGC patient and wishes to submit artwork for the exhibit, please contact Lori Bassett at lbassett@ggc.org or (864) 388-1061. Gene Week will conclude on Saturday, October 6th with the 8th annual Race the Helix - Greenwood. Registration for the 5K race or 1 mile walk is now open at GGC.org or RunSignUp.com.

Visit our new GGC Foundation website at GGC.org/foundation to register for all of our events. There you can also meet patients, find out more about our giving societies, and learn how you can join us in supporting the mission of the GGC!

AN EARLY LESSON IN GIVING

M issy Codington’s 10th grade biology students at Laurens Academy presented a check for $154 to the GGC Foundation.

The students raised money through a bake sale at the school in March in recognition of Down Syndrome Awareness Day. Students planned the event, baked desserts, and managed the sale in honor of Codington’s nephew who has Down syndrome. “We are so grateful to see the spirit of giving in these students, and on behalf of the families that this gift will support, we say thank you,” Victoria Hann, Director of the GGC Foundation, shared with the students at the check presentation at the school. Codington’s students have also benefitted from the Center’s educational outreach programs through visits to the Center and experiences on the Gene Machine mobile science lab.

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CLOSING THE GENETICS GAP

G enetics is a complex specialty encompassing many areas of health,

disease, and wellness. In order to provide complete medical care, providers across all specialties need a working knowledge of genetics as well as an understanding of what genetics specialists can offer. GGC’s Division of Education is partnering with training programs across SC to educate students about this increasingly important field. GGC faculty are actively engaged in teaching medical students at the USC School of Medicine in Greenville, offering lectures for nursing programs at Clemson and Lander University, and have recently provided a series of lectures in the USC School of Medicine’s Physician Assistant (PA) Program in Columbia. “The purpose of reaching these providersin-training is to illustrate the role of genetics in the practice of medicine and to enhance students’ understanding of genetics, a field that they will no doubt encounter, regardless of their specialty,” said Leta Tribble, PhD, Director of Education at GGC. “In addition to the lectures, we are planning to arrange clinical rotations for these students in GGC clinics.” Tribble also noted that with the shortage

Fatima Abidi, PhD, Assistant Director of GGC’s Molecular Diagnostic Laboratory, instructs USC School of Medicine Physician Assistant students on molecular testing technologies.

of clinical genetics providers, there is also the hope that we will be able to spark an interest in genetics in one of these students who may go on to specialize in this rewarding field. GGC welcomed its first Physician Assistant, Wesley Patterson, PA-C, (pictured right) to the Greenwood clinic in January. “There are very few PA’s working in genetics; however, we have found Wesley’s skill set to be a tremendous asset within

our clinical care team,” said Dr. Steve Skinner, GGC Senior Clinical Geneticist and Center Director. “Finding new ways to engage these and other talented medical professionals will help alleviate the geneticist shortage and ultimately allow us to better serve our patients.”

‘DOUBLE’ HELIX EXPRESS T he addition of the Helix Express cargo van to GGC’s Outreach Education Program in the fall of 2017 allowed the Division of Education to double its reach in the recently

completed school year. Through 187 school trips, the Education team provided hands-on activities and STEM career exploration for 12,237 students through the mobile program and another 804 through visits to the Greenwood campus. That compares to 6,540 served by the Gene Machine in 126 trips last school year. “We knew this had been an extraordinarily busy school year,” said genetics instructor Hannah Crawford. “But when we finally slowed down in late May and tallied the numbers, we were thrilled to see how many more students we were actually able to engage this year.” GGC Instructor, Hannah Crawford, works with students in their classroom at Cherokee

Trail Elementary School in Abbeville. The Helix Express allows GGC to transport the “By adding the Helix Express to our ‘fleet’, we have been able to serve larger class sizes and fit necessary equipment for use in the classroom. many more schools into our schedule, removing the barriers that we encountered when the Gene Machine was the only option,” said Leta Tribble, PhD, Director of Education. “And because of this growth, we have hired a fourth instructor starting this summer, so we will be ready for the 2018-19 school year.”

The state funding that supported the acquisition of the Helix Express also allowed GGC’s Outreach Program to have a stronger presence in more underserved and rural school districts across SC. As noted by Mrs. Jerry Brigman, a teacher at Chesterfield High School, “This program is so very beneficial to rural schools like ours. Students love the hands-on activities.”

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A WOMAN OF EXCELLENCE Boo Ramage (center), GGC’s Special Assistant to the Director and former Administrator, was recognized by the Greenwood SC Chamber of Commerce’s Women’s Leadership Council as a 2017 Woman of Excellence. These awards honor outstanding women in their professions who are committed community champions by recognizing their unique leadership influence. Boo was lauded for her ongoing dedication to the Girl Scouts of America program. She founded the Emerald Circle for Girl Scouts of SC – Mountains to Midlands Council and was recognized for her efforts in molding and mentoring girls to be leaders today and for years to come by helping them succeed in school, build self-esteem, avoid risky behaviors, develop healthy habits, and learn to set goals and achieve them.

THOMPSON JOINS AGT BOARD Teresa Thompson, technologist and supervisor in GGC’s Biochemical Genetics Laboratory, has been elected to serve as Membership Director for the Association of Genetic Technologists (AGT) through 2020. AGT is a professional organization established to promote cooperation and exchange of information among those engaged in classical cytogenetics, molecular, and biochemical genetics and to stimulate interest in genetics as a career. Teresa has been an active member of the organization, having presented several platform presentations on GGC’s technological advancements at their annual meetings. Her new leadership position involves growing the membership and supporting the over 800 laboratory professionals involved in AGT.

GGC HOSTS SC AUTISM MEETING GGC welcomed professionals from across SC for the spring meeting of the South Carolina Autism and Neurodevelopmental Disorders (SCAND) Consortium. SCAND is a network of professionals in various fields who are united by their mission to understand neurodevelopmental and autism disorders and provide support for families throughout the state of South Carolina. SCAND includes members from GGC, USC, USC Schools of Medicine, Clemson University, The Medical University of South Carolina, and Palmetto Health. GGC co-founder and Senior Clinical Geneticist, Roger Stevenson, MD (pictured left), and Molecular Fellow, Eric Bend, PhD, each shared GGC’s identification and a classification of indivduals with ASD who have known genetic alterations.

SYMPOSIUM FEATURES GGC SCIENTISTS Bob Jones University in Greenville, SC welcomed students and professionals to their 2nd annual Human Genetics Symposium on Autism Spectrum Disorder (ASD) in March. GGC cohosted the event and provided three of the evening’s speakers. Senior Genetics Scholar, Giovanni Neri, MD (far left) discussed the genetic basis of intellectual and developmental disabilities. Assistant Research Scientist, Luigi Boccuto, MD (center), shared new models of investigating the genetic and environmental aspects of ASD. Dr. Walter Kaufmann (right), former Director of GGC’s Center for Translational Research and Ravenel Boykin Curry Chair in Genetic Therapeutics, offered his expertise on ASD in individuals with Fragile X syndrome. (Photo courtesy of Bob Jones University)

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An EPIC Change to Improve Patient Care an efficient manner,” said Fran Annese, Greenwood Clinic Manager. “EPIC’s My Chart feature has been an asset to our metabolic patients who are frequently undergoing testing to monitor the effectiveness of their dietary treatments,” shared Neena Champaigne, MD, Director of GGC’s Metabolic Treatment Program. “Parents can access their child’s results as soon as they are completed and modifications to their diet can be made quickly.”

PIC, an electronic health record system, was adopted by GGC at the end of 2017 to improve care for our patients and families while ensuring the security of their data. GGC and Self Regional Healthcare in Greenwood are operating under the EPIC system of the Greenville Health System (GHS), which allows easier access to our patients’ complete medical records and improves the referral process and communications between GGC and other Self Regional and GHS providers. EPIC also allows GGC providers across the state to have easy access to their patient’s information from the satellite offices, or even from home, through a secure portal. It also includes a patient portal known as ‘My Chart’ which allows patients direct access to their information. “My Chart has been a wonderful way for us to improve our communication with patients regarding their appointments or to address other questions in

EPIC is also providing more consistency of care throughout the GGC system. With protocols and templates in place, clinicians can standardize care no matter who sees the patient or in which location. It’s also saving time in the office. “There’s more efficiency in GGC operations by eliminating duplicate entries of information into separate systems,” said Melinda Todd, GGC’s Insurance Coordinator. “EPIC currently links the clinic, billing office, and diagnostic laboratories in one integrated system.” “It’s always a challenge to implement a new way of managing information,” shared Dawn Puderbaugh Hodges, GGC’s Administrator. “But our faculty and staff have undergone intensive training and are working hard to ensure that our patients and their families reap the benefits of this technology.” Above: GGC’s Melinda Todd, Insurance Coordinator (left), and Lisa Crawford, Billing Office Associate, review EPIC entries .

ON THE HORIZON We are anticipating many exciting and significant changes in and around GGC in the coming months...

July-August

GGC will welcome Rich Steet, PhD from the University of Georgia as the new Director of Research in the JC Self Research Institute. Heather Flanagan-Steet, PhD will also join GGC’s faculty as Director of the Center’s new Aquaculture Facility which is under construction. The Steets study zebrafish as a model of several human genetic diseases including congenital disorders of glycosylation and mucopolysaccharidoses.

July 1

The Clemson Center for Human Genetics will officially begin operations in Self Regional Hall with the arrival of Dr. Trudy Mackay, Director of the Clemson Center and Self Family Endowed Chair in Human Genetics, and Dr. Robert Anholt, Provost’s Distinguished Professor at Clemson. Drs. Mackay and Anholt, along with their lab staff and graduate students, will be studying drosophila (fruit fly) models of human disease and behavior.

Keep an eye on our website www.GGC.org and social media pages to keep up with all of the latest news.

The Greenwood Genetic Center is a nonprofit institute organized to provide clinical genetic services, diagnostic laboratory testing, educational programs and materials, and research in the field of medical genetics.

106 Gregor Mendel Circle Greenwood, SC 29646

www.GGC.org

Tel: 864-941-8100 Toll Free: 888-442-4363