Greenwood Genetic Center Summer 2016

Where Compassion Inspires Progress

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Summer 2016

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Leading the Way The Greenwood Genetic Center is operating in the most exciting era of genetic medicine - an era in which the pace of discovery is rapid and the promise of treatments for our patients is within our grasp. We are not only keeping up with the dramatic advances in the field of medical genetics and genomics, but I’m proud to say we are setting the pace! With the dedication and expertise of our employees, board members and volunteers, and the generosity of our donors, the Greenwood Genetic Center is staying true to its mission of delivering high quality compassionate genetic services while leading the way in providing answers, treatments, and hope for patients across South Carolina and beyond.

In the following pages, you will learn how the Center and our patients have benefitted from numerous partnerships established over the past 42 years - from ongoing work with the SC Department of Disabilities and Special Needs to more recent collaborations with Clemson University and the Greenwood Partnership Alliance. Teamwork, both internally and with our governmental, academic and private industry partners, has been vital to our successes, and will be even more important as we develop and deliver the latest in diagnostic testing and treatments to patients with disabilities, birth defects, autism, and other conditions.

In recognizing those who have helped us along the way, I must take the opportunity to honor the significant contributions of the late Senator Billy O’Dell. Sen. O’Dell passed away in January, and we at GGC not only lost a passionate advocate and champion for the Center, but also a dear friend. We are grateful to Sen. O’Dell “I do things that are enlightening... I think others would be for his vision, leadership greatly inspired by what they see here.” - Dr. Ben Carson, former and support of GGC presidential candidiate, on his tour of GGC in February, through the years. and why others should plan a visit.

GGC is fortunate to have talented employees, ardent supporters, and faithful friends. We thank you all for your continued commitment to see that the families we serve receive the best that genomic medicine has to offer. We are excited to be a part of what is to come!

Steve Skinner, MD Director

“They (GGC) are a private and government mixture, and I think that’s a solution that works extremely well.”

- Dr. Ben Carson

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Treatment Initiative Moving Forward The Center for Translational Research at GGC led by Dr. Walter Kaufmann, the Ravenel Boykin Curry Chair in Genetic Therapeutics, is working toward bringing genetic therapies to patients with neurodevelopmental disorders.

GGC’s newly named Center for Translational Research (CTR) has been moving forward over the past months developing relationships with potential collaborators and creating goals for the Center.

The CTR’s faculty, Dr. Walter Kaufmann and genetic counselor, Jennifer Lee Stallworth, MS, are leading GGC’s initiatives regarding the treatment of genetic disorders with a focus on neurodevelopmental conditions.

Neurodevelopmental disorders such as Fragile X syndrome and Rett syndrome are not only longtime areas of focus of GGC, but are conditions that Kaufmann has had particular expertise in as a pediatric neurologist and researcher at Johns Hopkins University and Boston Children’s Hospital.

A major goal of the CTR is the design and implementation of drug trials in collaboration with academic reseachers and industry. To that end, Kaufmann has been meeting with translational research and genetics faculty members at a variety of academic institutions as well as working to develop relationships with potential private industry partners.

“Working together with academia and industry is the only way to successfully reach our goals of developing effective therapies, performing drug trials, and guiding these products through the regulatory process so they are available and affordable for our patients,” said Kaufmann.

drug is having the intended impact on the patients’ overall health or behavior,” said Kaufmann.

Another aim of the CTR is the development of biomarkers and outcome measures for these disorders.

“Drug trials are important, but in order to assess their efficacy, we have to know what outcomes we are looking for - how can we measure whether or not the

“Mobile devices, apps and wearable technology have the potential to do much more than count our steps,” said Stallworth. “They can provide continuous measurements and assess and track more data regarding therapeutic responses and disease progression.”

A longer-term goal within the CTR is to explore the use of wearable technology to provide ongoing assessments of the outsome parameters.

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Persistence Pays Off in the Lab and on the Course

Ben Swain of Newcastle in New South Wales, Australia was born with Split Hand and Foot Malformation (SHFM). At age 36, a team of GGC researchers 9,000 miles away found the answer he had been searching for.

Swain was born with only a thumb and forefinger on his left hand...

and a malformation of his right arm beginning at the elbow. He also has a malformed left foot. Until recently, there was no known explanation for this disorder which also impacts his father, brother (mildly), and nephew.

Swain, a successful lawyer, has adapted his own way of doing things like tying his shoes, typing, and playing tennis. As a child he enjoyed riding mountain bikes, but couldn’t manage the gears on a road bike to race competitively. Three years ago, with modifications to his road bike, he began cycling with the assistance of the Australian Paralympic Committee. Since then he has won numerous cycling medals at Australian and international events and has his eye on competing in the 2020 Paralympic Games in Tokyo. His persistence in cycling has carried over into his determination to learn the cause of SHFM in his family.

In 2008, as Ben’s brother considered starting a family, the Swains contacted researchers across the globe to find studies to help identify the causative gene, but to no avail. Then Ben’s father came across a journal article about SHFM authored by GGC Director of Research, Dr. Charles Schwartz. “Prior genetic testing had been unsuccessful in identifying the genetic cause for our condition,” said Swain. “We knew that if we had any hope of identifying the SHFM gene in our family, that hope rested with Dr. Schwartz and the Greenwood Genetic Center.”

Swain contacted Dr. Charles Schwartz’s lab at the JC Self Research Institute. ”We knew of several genes that cause SHFM, but none of those were identified in the Swain family,”

said Schwartz. His team, however, continued to work toward an answer. Eight years later, through whole exome sequencing technology, they found something interesting.

A mutation was identified in a new gene that had never before been linked to SHFM. Testing in the Swain family identified a previously unreported mutation in the PRDM1 gene. It was found in Ben, his father, brother, and nephew.

Further investigation led Schwartz’s team to suspect that this was the cause of SHFM in the Swain family.

“The mutation identified in Ben and his relatives leads to a shortened protein which causes it not to function properly,” said Schwartz. “The PRDM1 gene is also known to be expressed in developing fetal limb buds in animals.

Also, mice and zebrafish without this gene have been reported with abnormal limb and fin development. “ “It is truly amazing to finally know what has caused our family’s limb differences,” said Swain. “We are eternally grateful to Dr. Schwartz and the team at the Greenwood Genetic Center for the time and effort they have spent and are spending researching SHFM.”

But that’s not the end of the story...

Ben’s nephew with SHFM has an unaffected identical twin who, of course, also carries the PRDM1 mutation.

“Now that we have identified the gene responsible in this family, these twins provide a unique opportunity to better understand what factors lead to the expression of SHFM,” said Schwartz. “Why is one twin affected and the other unaffected? The answer to this question may provide information on preventing such malformations in the future.”

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Senior Scholars Program Brings International Experts to GGC Senior Scholars at GGC are distinguished scientists in genetics or related fields who spend time in-residence at the Center each year. The program, which started in 1997, has provided GGC with access to international experts in fields from embryology to skeletal disorders to dysmorphology. Senior scholars share their expertise with fellows and faculty through lectures, collaboration on research projects, and involvement in clinic visits.

In 2010 the Leslie C. Meyer Genetics Scholar position was created by friends of Dr. Meyer, including the Timmons Foundation which also supports GGC’s autism research (p. 7). Dr. Meyer, a noted Greenville orthopedic surgeon, humanitarian and founder of the Meyer Center for Special Children, invited GGC to participate in clinics at Shriners Hospital in 1976. He went on to become a member of the GGC Board of Directors and was an Emeritus Director until his death in 2009. Dr. Jurgen Spranger currently holds the Meyer Scholar position at GGC and spends several months each year on campus.

Dr. Jurgen Spranger

Dr. Spranger is a former Professor and Chairman of the Children’s Hospital at the University of Mainz, Germany.

“If you want to do it, you can, even if you do it in your own way.”

- Ben Swain Photo credit: Tina Jones

Dr. Spranger is an international authority on disorders of the skeleton and author of the widely acclaimed text, Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development (3rd Edition, Oxford University Press, 2012). He has provided indispensable consultation on patients with rare disorders and participates broadly in the Center’s educational programs.

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RONGRONG HUANG, PHD MASS SPECTROMETRY SPECIALIST

Advancing the Field

GGC’s faculty and staff are constantly striving to provide the best to all of the families we serve. In the course of this important work, innovations abound, excellence is acknowledged and scholarship is shared.

IMPROVED DIAGNOSTICS

The Biochemical Genetics Laboratory has designed an advanced test to diagnose a group of rare metabolic disorders. The new test uses mass spectrometry technology to measure oligosaccharides, compounds that accumulate in patients with one of several glycoprotein storage disorders.

Glycoprotein storage disorders are a group of very rare conditions in which the body cannot properly break down protein-carbohydrate compounds, which are stored in various tissues. The clinical features vary, but typically impact multiple systems and cause a loss of physical and mental functioning.

“The new assay offers improved sensitivity and specificity which means that the diagnosis won’t be missed,” said Tim Wood, PhD, Director of GGC’s Biochemical Genetics Laboratory. “We also see utility in monitoring these patients as they participate in treatment trials for novel therapeutics.”

“Proper and timely diagnosis can be difficult in uncommon,

“Proper and timely diagnosis can be difficult in uncommon, progressive diseases.” progressive diseases, like the glycoproteinoses,” said Sara Cathey, MD, Assistant Clinical Geneticist in GGC’s Charleston office who studies these conditions. “Most laboratories and clinical centers lack a great deal of experience with these conditions, so these advancements are tremendously valuable to the patients and their families.”

The new assay design is now clinically available only at GGC.

NEW HEARING LOSS GENE PANEL

Congenital hearing loss is one of the most common concerns identified in newborns with approximately 2-4/1000 babies affected. Fifty percent of childhood hearing loss is caused by

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genetic factors.

GGC’s DNA Diagnostic Laboratory has launched a next generation sequencing panel to identify the causative mutations for individuals with hearing loss in 84 simultaneously analyzed genes. These genes are related to both isolated hearing loss as well as hearing loss that is part of a broader syndrome.

ideas, learn new technologies, and work on solutions to problems in the laboratory in a relaxed, small group setting,” shared Dr. DuPont. “It is a privilege to serve this organization and work with many world renowned cytogenetics professionals.”

HUMAN MALFORMATIONS

The third edition of the text “Human Malformations and Related Anomalies” was recently published. The cover features Dr. Roger Stevenson’s original artwork.

50% of hearing loss is genetic “Knowing the underlying genetic cause for an individual’s hearing loss allows for a couple to understand the chance for future children to have hearing loss and if other family members may be at an increased risk for hearing loss,” said Ken Corning, Genetic Counselor in GGC’s Columbia office. “This information can also help us better predict whether the hearing loss will progress and if certain treatments, such as cochlear implants, would be beneficial.”

DUPONT ELECTED VP

Barb DuPont, PhD, Senior Director of GGC’s Cytogenetics L a b o r a t o r y, h a s been elected as Vice President of the American Cytogenetics Conference (ACC).

DuPont assumed her new role at the ACC meeting in June and will serve for two years, upon which time she will become president.

The ACC is an educational organization composed of over 300 cytogeneticists from the US, Canada, and Europe. The biannual conference is centered on the sharing of ideas and discussions of new discoveries in the field of cytogenetics, providing scientific sessions for learning as well as time for networking with colleagues.

“The ACC is a wonderful organization which gives us an opportunity to exchange

Edited by Stevenson and GGC’s Dr. David Everman, along with Dr. Judith Hall and Dr. Ben Solomon, this text is a comprehensive reference and clinical guide to significant human malformations.

Authored by 40 authorities in genetics and dysmorphology, the new edition offers a richly illustrated guide to clinical presentation, associated anomalies, treatment, and prognosis.

Originally published in 1993, with a revision in 2006, this reference book is part of the prestigious ‘Oxford Monographs on Medical Genetics’ series.

TELEHEALTH

GGC is committed to providing access to genetic services across South Carolina, but even with five locations across the state, barriers can still prevent patients from receiving the services they need.

GGC has received funding from the SC Telehealth Alliance and MUSC to obtain the necessary equipment to begin a telehealth program at GGC. The initiative is scheduled to begin in July 2016 with clinicians in the Charleston office providing telehealth services to patients in the Florence area before expanding state-wide.

“Telehealth will benefit patients and families, particularly those in rural areas or those with difficulties traveling to one of our offices due to transportation problems, work schedules or other barriers,” said Mike Lyons, MD, Associate Clinical Geneticist in the Charleston office. “The telehealth

equipment will allow us to provide genetic counseling and consultations from one of our offices to local clinics or outreach sites where patients and families have easier access to care.”

Projects to analyze the telehealth program’s utility, including cost savings and patient satisfaction, are planned.

AUTISM PROGRAM FUNDING

Dr. Anand Srivastava, Associate Director of Research, and his lab are working to develop a bloodbased diagnostic test for autism spectrum disorders (ASDs) and use the knowledge acquired in that process to develop effective biologic treatments.

In support of these efforts, GGC has received funding support from three grants.

$600,000 for autism work

The BlueCross BlueShield of SC Foundation has provided $300,000 over the next year to support the validation of the blood test and transition of the test to the Biochemical Diagnostic Laboratory.

The SC Department of Disabilities and Special Needs is providing $200,000 to support the development of an autism treatment program. This program will further study potential therapeutic options and devise a treatment protocol and clinical trials through the Center for Translational Research.

Dr. Ennis and Dru James, through The Timmons Foundation, have awarded $100,000 the GGC Foundation to further support the autism test development and treatment initiative.

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GGC/CLEMSON COLLABORATIVE

Working Together

“Unity is strength...When there is teamwork and collaboration, wonderful things can be achieved.”

-Mattie Stepanek, child and poet with dysautonomic mitochondrial myopathy

GGC has many strengths in the study and provision of genetic medicine and innovative educational offerings, yet recognizes that even greater things can happen when resources are pooled and expertise is shared. Partnering with state agencies, academic institutions, industry, and other organizations will only increase our impact.

CLEMSON UPDATE

The Clemson University Center for Human Genetics on the Greenwood campus is set to open in early July. The Self Family Chair in Human Genetics is being recruited, and along with this distinguished scientist, four additional Clemson faculty members and up to 15 graduate students will work in the 17,000 sq ft research and education facility.

The six GGC/Clemson collaborative grant projects funded by Self Regional Healthcare in 2014 are completing the second year of the three year grant cycle. Pictured above are GGC Research Technologist, Lauren Cascio; GGC Assistant Research Scientist, Luigi Boccuto, MD; and Clemson University Research Assistant Professor, Kevin Champaige, PhD. This team is collaborating to understand the biochemical basis of autism by evaluating

how the metabolism of tryptophan differs in cells bewteen children with autism and typically developing children.

STRATEGIC PLANNING

Two strategic plans are underway at GGC to guide the future development of the Center and the surrounding Greenwood Research Park.

The Greenwood Partnership Alliance, the county’s economic development organization, along with GGC and other community stakeholders, are working with Point A Consultants to develop a strategy for the development of the Greenwood Research Park. This plan, which is expected to be completed within 2016, will guide the expansion, recruitment and management of the Park, which consists of 170 acres adjacent to the Greenwood campus. The longtime vision has been to attract biotechnology industry, academic institutions and others in the field to Greenwood to develop and offer products and services related to the work of the Center.

A second strategic plan has also been funded by the US Economic Development Administration (EDA) with assistance

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LEATH TOYS

from the Upper Savannah Council of Governments. The EDA grant work will focus on the future goals of the Greenwood Genetic Center itself. This process will provide a comprehensive strategic and implementation plan to ensure that GGC’s core mission is maintained, its scientific and research capabilities are maximized for both internal and external benefit, and that these efforts leverage private sector investment and job creation in the region. Topics such as technology commercialization initiatives and innovation strategies will be explored.

SCIENCE ON TAP

In March, the Division of Education initiated ‘Science on Tap,’ a community lecture series designed to share scientific advancements in the Greenwood area with the community in a relaxed, informal setting.

The first event was held at Howard’s on Main in Uptown Greenwood and featured GGC’s Director of Research, Dr. Charles Schwartz sharing the Center’s autism research with a standing room only crowd. While Science on Tap events are coordinated by GGC, speakers are invited from other area organizations such as

SCIENCE ON TAP

draws or just to ease fears about their visit. When a child chooses their unique handmade toy, they are also issued an ‘adoption certificate’ to make it official.

Lander University and Erskine College.

The upcoming schedule can be found at GGC.org/education

Participation in the program is a privilege that each inmate must earn by demonstrating positive behaviors and the desire for self-improvement.

DNA DAY

DNA Day is celebrated on April 25th each year in recognition of the discovery of the double helix structure of DNA in April of 1953 and the completion of the Human Genome Project in April of 2003.

The collaboration was initiated by Sharlene Greene of the GGC Foundation Board of Trustees and supported by the CateecheePalladian Study Club of Greenwood.

This year, GGC teamed up with the National Human Genome Research Institute to make DNA Day a month-long event. For each Gene Machine stop during April, DNA Day was celebrated with banners, fun facts and giveaways.

LEATH SUPPORTS PATIENTS

Children visiting the GGC are receiving comfort by way of a new partnership between GGC and Leath Correctional Institution in Greenwood.

Women participating in Leath’s Character Art Program learn to crochet and have created a variety of items that are donated to local nonprofit organizations. Toy animals made by women in the program are donated to GGC where they are given to children to comfort them during blood

DNA DAY

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Race the Helix® What began in 2010 as a small community 5K in Greenwood has grown into a statewide series of events and has received support from companies worldwide. Race the Helix is a centerpiece of the GGC Foundation’s outreach to support awareness and raise funds to support the mission of GGC. •

The second annual Race the Helix - Upstate was held in Greenville on April 16th. The event was a wonderful success bringing together GGC employees, families, and a variety of supporters to raise awareness for those impacted by genetic disorders. Proceeds from the event totalled $5,128 and benefitted the GGC Foundation. Special thanks to the Wes, Brooks, and Charlie Connor, who hosted the race, and all of the generous event sponsors, Affymetrix, Carolina Pride, Countybank, GeneDx, First Citizens Bank, Shire, Spirit Communications, Sykes, The Connor Family, BioMarin, Team Lucy Belle, The Everman Family, The Lukus Family, The Rogers Family, and McDonalds.

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Race the Helix will also be headed to Boston, California, and Canada this year. With partners at London’s Front Line Genomics, attendees at the Festival of Genomics in Boston, the Festival of Genomics in San Diego, and the American Society of Human Genetics Meeting in Vancouver will be encouraged to bring their running shoes and spend time logging miles on the treadmill in the exhibit hall to support the GGC Foundation. Follow GGC on Facebook and Twitter throughout the summer and fall to learn how you can become involved.

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The first Race the Helix-LowCountry is planned for Charleston in May of 2017, and the GGC Foundation is seeking area families to become involved. Contact the Charleston office (866-588-4363) or the GGC Foundation (888-442-4363 or vhann@ggc.org) to learn more.

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Race the Helix and the event logo have received registered trademark status from the US Patent and Trademark Office.

You can learn more about Race the Helix and the family that started it, by viewing ‘One Family’s Vision’ on GGC’s YouTube channel or at GGC.org.

Far left: Tom Farthing crosses the 5K finish line at Race the Helix-Upstate to high fives from cheerleaders, Journey Earls and Brooks Connor.

Left: The Race the Helix team from PacBio went all out for the Best Dressed award at the Race the Helix Treadmill Challenge during the Festival of Genomics in London.

Save the Dates!

Jammin’ for Genes - September 30, 2016 Race the Helix®- Greenwood - October 1, 2016 The first Race the Helix - LowCountry - May 6, 2017 For more information on how you can support the Center through the GGC Foundation, visit GGC.org or contact the Foundation at (864)388-1813 or 1-888-442-4363.

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GGC’s people are the heart of our organization. We welcome these dedicated individuals to our team...

Jon Bos, PsyD, MSCP, ABPdN Pediatric Neuropsychologist

Dr. Jon Bos is a board-certified pediatric neuropsychologist who joined GGC in November 2015.

Dr. Bos, who is based in GGC’s Columbia office, conducts developmental and neuropsychology assessments for the Columbia, Florence, and Charleston clinics. These assessments provide snapshots of the child’s development over time, and provide information regarding the effectiveness of medical, dietary, educational, and psychological interventions on the child’s developmental trajectory.

Katy Drazba, MS Genetic Counselor

Katy Drazba, MS is a genetic counselor who joined GGC’s Florence office in June. She is a 2016 graduate of the University of Alabama at Birmingham’s Master’s in Genetic Counseling Program.

She also has a Master’s in Public Health with a focus on Maternal Child Health from the University of Illinois at Chicago. Katy provides genetic counseling services to individuals and families in the PeeDee region regarding a variety of indications including intellectual and developmental disabilities, autism and other health concerns.

John A. Miller, Jr. Board of Directors

John A. Miller, Jr., President Emeritus of AnMed Health System in Anderson, joined the GGC Board of Directors in March. Miller, who has a Master’s degree in Healthcare Administration from Duke University, has held various administrative roles at AnMed since 1973, serving as Chief Executive Officer from 1998-2014. Miller has served on numerous boards throughout SC for organizations involved in healthcare, economic development, and community initiatives.

Since joining GGC’s Board, he has become closely involved with the strategic planning projects for GGC and for the Greenwood Research Park (p.8).

Congratulations!

2016 Laboratory Fellow Graduates Three laboratory trainees have completed their fellowships through the Center’s Medical Genetics Training Program. Pictured (left to right) Raymond Louie, PhD (Molecular Genetics), Kate Simmons, PhD (Biochemical Genetics), and Abbas Padeganeh, PhD (Cytogenetics).

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

106 Gregor Mendel Circle Greenwood, SC 29646 Tel: 864-941-8100 Toll Free 888-442-4363 www.ggc.org

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