Greenwood Genetic Center - Summer 2020 Newsletter

Summer 2020

A Newsletter for the Friends of the Center

Spotlight on GGC p.

e r e h W COMPASSION

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L-R: Camerun Washington, MS, CGC; Steve Skinner, MD; Dawn Puderbaugh Hodges, JD; Rini Pauly, MS; and Lori Bassett, MS, CGC Photo credit: John Madere Photography

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Diagnostic Lab employee reflects on 32 years of service

INSPIRES p.

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GGC family honors son's legacy with Dylan's Law

www.GGC.org

PROGRESS p.

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Affiliation with MUSC is improving patient access and care

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Different, but the same As I write this message to our friends and supporters, we are in the midst of a most unusual time in our history as we navigate the coronavirus pandemic. The Greenwood Genetic Center is working hard to keep all of our employees and patients safe, while maintaining vital services available for the families who rely on us for diagnoses, treatment, and compassionate care.

In mid March, along with most other organizations, we quickly implemented operational changes to ensure the safety of our employees. Nearly half of our workforce became telecommuters, seemingly overnight, and those whose job requires them to be in the office or lab began working staggered and modified work schedules. We also transitioned all of our patient encounters to telegenetics appointments. While GGC has been offering telegenetics on a smaller scale since 2016, this new way of working required patience and perseverance on the part of all of our clinical providers and support staff. I have been amazed and inspired at how they have responded. Patient care has been different, but has not suffered during this pandemic.

While our laboratory volume did drop significantly this spring, we are seeing signs of rebounding. Patients seen via telegenetics have been able to collect saliva samples for DNA testing by using kits mailed to their homes. Testing continues, vital research projects proceed, and the zebrafish are being cared for, as technologists and lab support staff employed social distancing, adjusted to staggered schedules, and did what was necessary to keep themselves and their coworkers healthy.

I want to take this opportunity to thank each member of our GGC team. Every single GGC employee has stepped up during this time, making inconvenient changes to their work schedules, altering their office environments, and adapting to a very different way of doing things.

I would also like to acknowledge some members of our GGC family who aren't always in the spotlight - their names may not be included in scientific publications or press releases, but their contributions are invaluable to us all.

Our facilities and maintenance team: Cody Jeter, Jim Kelly, Jackie Satterwhite, Carolyn Stevens, Kim Wakefield, and Rick Waller keep our campus operational all the time, but their efforts over the past few months in cleaning and human genome of 3 sanitizing our buildings has been vital to our continued operations. We are alsoThe indebted to our isITcomprised Department: billion base pairs, made up of four chemical Logan Bautista, Reggie Gilbert, Blake Johnson, and Colby Turner who quickly and efficiently supported employees bases (ACGT) that are the blueprints for who were transitioning to home offices and used their talents and expertise tolife. keep us connected, to each Testing to determine both the sequence of all 3,000,000,000 letters is called whole other and to the patients we serve. genome sequencing (WGS).

As we look forward to resuming more normal operations as conditions allow, we hope yousequencing will enjoy(WES), our biannual Whole exome which GGC currently offers as a clinical test, 'Friends of the Center' newsletter to share what else we've been up to over the past six months. We value sequences your the coding regions, or exons, of each of the continued support as we all weather this storm together (but apart). approximately 20,000 genes. However, much of an individual's DNA is not found within those exon regions of the genes. In fact, whole exome sequencing only analyzes 2% of the whole genome, or around 60,000,000 base pairs.

One of the challenges of WGS is that the function and significance of much of the other 98% of DNA remains unknown. This makes interpreting whole genome results challenging. Through TGEM, by integrating the DNA code identified by WGS with the clinical patient data, we can better predict the meaning of those DNA changes for our Steve Skinner, MD patients.

Director

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SUCCESSFUL JOURNEY

Discovery focus of GGC Foundation's fundraising campaign In February, the Greenwood Genetic Center Foundation announced the successful completion of an 18-month ‘Journey of Discovery’ fundraising campaign supporting the Center’s advancing technologies.

The GGC Foundation surpassed the campaign’s fundraising goal of $1.35 million, set in July of 2018, by announcing $1.56 million in gifts to support three areas of innovation – model organisms, confocal microscopy, and genomic sequencing.

“The success of this campaign is a testament to the wonderful work happening at GGC every day,” said Boo Ramage, Interim Executive Director of the GGC Foundation.

“The innovative work, and the potential it holds, has helped us to engage philanthropic individuals, businesses, and foundations with a common purpose of serving patients impacted by genetic disorders.”

A $350,000 gift from Hazel Allin and her late husband, Bill, in 2018 was the catalyst for the campaign. The Allins donation supported the development of the Hazel and Bill Allin Aquaculture Facility on GGC's Greenwood campus which currently houses over 7,000 zebrafish used as model organisms in the study of genetic disorders.

“Bill and I have long respected the work of the Greenwood Genetic Center and are proud that we could support their commitment to patient care and research,” said Hazel Allin. “I am grateful that Bill was able to see the fulfillment of this gift, and I look forward to following their groundbreaking work that will help patients and families around the world.”

Model organisms, such as GGC’s zebrafish, allow researchers to identify how genetic changes impact development and cause disease.

"Zebrafish and humans share 70% of the same DNA, so they are a robust system offering tremendous applications for studying human genetic disease," said Heather Flanagan Steet, PhD, Director of

The 2018 gift from Hazel Allin and her late husband, Bill, was the catalyst for the 'Journey of Discovery' campaign.

Functional Studies at GGC and Director of the Allin Aquaculture Facility. "The work we have accomplished using this model organism has already solved numerous diagnostic uncertainties, and is showing promise in identifying specific therapies for a number of GGC patients." (see p. 11) The campaign also supported GGC's acquisition of a confocal microscope. This advanced imaging tool allows scientists to view cell processes with incredibly high resolution and study zebrafish in a noninvasive manner. GGC’s confocal images are already being used to confirm patient diagnoses.

Through the Journey of Discovery campaign and the Center’s collaboration with the Clemson University Center for Human Genetics in Greenwood, GGC's genomic sequencing has been improved with the addition of the NovaSeq 6000.

This instrument, which is the only one in South Carolina, is the top-of-the-line DNA sequencer that can provide analysis of genetic changes throughout the genome.

"Since acquiring the NovaSeq in 2018, we have transitioned our whole exome sequencing test to this platform which provides greater throughput, getting results to our patients more efficiently," shared Mike Friez, PhD, Director of GGC

Diagnostic Laboratories. "Whole exome sequencing, which analyzes the coding region of each gene, approximately 2% of the DNA, has been a game changer for many families, uncovering diagnoses when traditional testing was unsuccessful. With the NovSeq we are now moving toward whole genome sequencing, which provides a complete DNA sequence. GGC plans to begin offering whole genome sequencing clinically later this year.

GGC’s Director, Steve Skinner, MD, said the technologies made possible through the campaign are already helping more patients find answers, and are providing hope for treatments.

“We, and the families we serve, are indebted to all who supported the Journey of Discovery,” said Skinner. “Advanced genomic sequencing is helping us more easily identify genetic changes in patients, and the zebrafish system and confocal microscope are already improving our understanding of how those changes cause the problems that they do. This understanding is crucial to identifying and developing treatments that will improve the quality of life for the patients and families we serve.”

To help the GGC Foundation's in their efforts to support the mission of the Greenwood Genetic Center, please visit www.ggc.org/foundation. You can also make a gift using the enclosed envelope.

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BEHIND THE 'SCREENS'

QUALITY AT HEART OF LAB TESTING Keeping up with the innovations: Stewart has transitioned her role at GGC from Prenatal Screening Coordinator to quality control over GGC's dried blood spot testing.

ANOTHER RECORD YEAR

For the second year in a row, GGC’s Biochemical Genetics Laboratory posted record-setting test volume. The lab finished the 2019 calendar year with 12,577 completed laboratory tests, up from 10,703 in 2018 and double the volume from just four years earlier. Despite the increase in samples, they were able to meet turnaround time standards for over 90% of these tests.

The Biochemical Laboratory handles a variety of testing needs including providing follow-up confirmatory testing for South Carolina's newborn screening laboratory and monitoring for patients who are on various dietary and enzyme replacement therapies. In addition, the laboratory has internationally-renowned expertise in diagnosing lysosomal storage disorders. This experience has attracted collaborations and contracts with a number of pharmaceutical companies. Through these projects, GGC is helping to diagnose patients from around the world and monitor the effectiveness of several therapies that are part of ongoing or upcoming clinical trials.

Lab Director, Tim Wood, PhD, credits his team for their dedication to patient care. " We are pleased to see such growth in our laboratory over the past few years, and the ability to handle the increased demands has been met with professionalism and commitment on the part of our technologists and support staff. They work every day with purpose - to improve the lives of the patients we serve."

"J ust being a part of this place" - that's what Kim Stewart, Quality Supervisor

for GGC's Biochemical Laboratory, says when asked why she loves working at GGC. " I have great respect for all that has been and will be accomplished here."

Stewart joined the Center's Diagnostic Lab as sample coordinator in 1988. In 1990 she was asked to 'fill in' as prenatal screening program coordinator - a temporary assignment that grew into a 25 year-long passion.

With a background in medical technology, Stewart's program provided analysis of maternal blood samples to identify pregnancies at risk for specific birth defects and chromosomal disorders. Through the years she managed the rapid growth of the program including test validation, epidemiological monitoring, and education and communication with healthcare providers.

Stewart worked for nearly 25 years with retired laboratory technologist, Judy Haley. The duo processed samples sent to GGC from OB/GYNs across South Carolina. They validated the assays and instruments, ran the testing, and reported the results to the physicians.

GGC's Biochemical Laboratory Director, Tim Wood, PhD, recalls, "Judy and Kim cranked out tens of thousands of results - always meeting the quick turnaround times that are necessary for prenatal samples. It was no fuss, we just left them to it."

"Kim and I shared the 'med tech' approach to lab work with a focus on

providing accurate and timely results that were critical to each patient's prenatal care," said Haley. "Kim prides herself on quality assurance, and is always a calming voice in the lab."

One of the most rewarding parts of the job for Stewart has been her role with the South Carolina Birth Defects Prevention Program. Since 1992 the program has led to a 60% decline in the rate of birth defects of the brain and spine, also known as neural tube defects or NTDs, in South Carolina.

"The prenatal screening program has been an invaluable tool for our NTD prevention initiatives," said Jane Dean, RN, Statewide Coordinator of the SC Birth Defects Prevention Program.

"Kim's testing protocols helped us diagnose neural tube defects quickly, and allowed us to reassure moms who were worried about a recurrence of these birth defects. We couldn't do it without her."

"Dr. (Roger) Stevenson's vision for patient care for the genetic center and for the birth defects prevention program is what drives us all," said Stewart. "The only goal is to serve our patients with the highest level of quality and compassion - everything else we do stems from that."

As technologies advanced, other tests took the place of the prenatal screening blood test, and by 2015 GGC had discontinued the screening program.

Stewart wasn't sure what the future would hold for her.

It was around that time when the

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laboratory's work with a different sample type, dried blood spots, began to take off.

"Dried blood spots allow us to run screening and diagnostic tests using a small sample of blood, often collected from a finger or heel stick," explained Stewart. "They are also easier to transport to the lab than a tube of blood."

As GGC's Biochemical Lab validated numerous assays using dried blood spots instead of tubes of blood, a new opportunity emerged - industry contracts.

"A significant part of the sample volume coming through our lab now is generated by partnerships with various pharmaceutical companies and industries," said Wood. "Our ability to run many of our tests using dried blood spots has facilitated these partnerships as the referring providers involved in these projects need to be able to collect and transport the samples to our labs efficiently and from locations around the world."

So now, Stewart focuses on maintaining quality control over biochemical lab samples, including these blood spot samples, reviewing results, and reporting those back to the referring providers.

Most of GGC's dried blood spot testing are for a group of rare diseases called lysosomal storage disorders, many of which have either an FDAapproved treatment or emerging therapies in clinical trials.

"With treatment decisions at hand, we must ensure that our results are not only accurate in diagnosing the patient, but also that we generate the answer quickly," said Stewart. "There is no room for mistakes when the patient is depending on your results in order to start a potentially life-saving treatment."

"Kim is, and always has been, focused on patient care and quality results," said Wood. "She is always thinking of how the results will be interpreted by the physicians. In addition to managing samples and reports, she also learns the nuances of the assays she is responsible for, allowing her to catch small issues before they become problems."

"Prenatal serum screening was a significant program at GGC for over two decades, and the birth defects

Stewart spends a great deal of her day reviewing lysosomal enzyme testing results, generating reports, and communicating with referring providers and labs.

prevention program and lysosomal enzyme testing projects are major GGC initiatives impacting thousands of patients each year," said Wood. "Kim, who has been at the heart of each of these programs, can claim a large part of their success."

"The shift in focus hasn't been easy," shared Stewart, "but in a genetics laboratory setting where technologies seem to change almost daily, you have to work hard and be flexible. Our patients depend on it."

'DYLAN'S LAW' SIGNED AT GGC South Carolina Governor Henry McMaster visited GGC in November for a ceremonial signing of Dylan’s Law (H.3036).The law adds three new genetic conditions, Krabbe disease, Pompe disease, and MPS1 (Hurler syndrome), to the state’s current newborn screening panel that is performed through a heel stick on all babies born in the state.

The law is named for Dylan Emery, a Greenwood County infant who was diagnosed at GGC with the fatal infantile form of Krabbe disease at six months of age.

“When the Emery family came to us in May of 2018, we offered them everything we could at that time. We found a quick diagnosis and gave them answers for Dylan’s condition; however, because Dylan’s condition was identified too late, he was not eligible for the potentially life-altering and life-saving treatments that are currently available for those with Krabbe disease.”

McMaster signed the bill surrounded by Dylan’s parents and sisters, local legislators, and the Hindman family, whose two-year-old daughter, Naomi also has Krabbe disease.

Dylan passed away just a few weeks shy of his first birthday. His family and community family were committed to raising awareness of this rare condition. Following his death, they worked with SC Rep. John McCravy to get Dylan’s Law passed to ensure that other families in SC would have access to life-saving treatments.

McCravy credited the Emery family with their resolve to get the bill passed. “Instead of being bitter they turned it into something positive, caring about others. Because of the Emery family, the Greenwood community, and the Greenwood Genetic Center, we’re proud to say that other newborns with Krabbe will now have a chance for treatment.”

Throughout this whole process, this has been about Dylan,” said Matt Emery, Dylan’s father. “Dylan’s time on earth was short, but his legacy lives on with Dylan’s Law.”

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WOMEN IN THE LIFE SCIENCES GGC worked with South Carolina Lieutenant Governor Pamela Evette to convene the 'Women in the Life Sciences Roundtable' at the SC Statehouse in Columbia on January 28, 2020.

The event attracted an elite group of female scientists and leaders, which included Boo Ramage, Interim Executive Director of the GGC Foundation, Heather Flanagan Steet, PhD, Director of GGC's Allin Aquaculture Facility, and Kellie Walden, MS, CGC, Director of Diagnostic Development for GGC's Diagnostic Laboratories.

Lt. Gov. Evette facilitated the discussions which focused on developing collaborations to expand the state's qualified life sciences workforce for this growing sector of the SC economy. The attendees shared unique challenges they have faced as females in this industry and initiated collaborations to encourage more women to pursue careers in the life sciences.

GENETIC COUNSELING AIDS 7TH EDITION One of the many things that GGC is known for are the Genetic Counseling Aids, a reference of visual aids and information designed to help geneticists and genetic counselors explain complicated concepts to patients and families using easy-to-understand images and graphics. GGC launched the 7th edition of this popular resource in April.

The Counseling Aids are available in a printed format, as well as digital downloads and a Counseling Aids iOS app.

"The Counseling Aids were first published in 1984, and through seven editions have been purchased and used by clinicians and educators from around the world," said Leta Tribble, PhD, GGC's Director of Education and head of the Counseling Aids project. "Our GGC team of clinicians and laboratory experts works to ensure that each new edition includes the most up-to-date information for this field that is rapidly evolving."

The 2020 edition was developed by Tribble, Lori Bassett, MS, CGC, Barb DuPont, PhD, Julie, Jones, PhD, Angie Lichty, MS, CGC, Hannah Moore, MS, CGC, Wesley Patterson, MSPA, PA-C, Laura Pollard, PhD, Julia Russo, MS, CGC, Jennifer Stallworth, MS, CGC, and Kellie Walden, MS, CGC.

BOARD NOTES In December of 2019, John R. Hunt, MD of Anderson, SC was recognized by the GGC Board of Directors for 14 years of service to the Center's board including six years as chair. Dr. Hunt was also named as a Director Emeritus in recognition of his outstanding service to the mission of GGC. He also retired from the GGC Foundation Board of Trustees. We are grateful for Dr. Hunt's enthusiastic and steadfast support of GGC. (Pictured left with GGC Board Chair, Dell Baker) GGC's Board of Directors also welcomed two new members, Howell Clyborne and Sally Self, MD. Clyborne of Greenville, SC is a retired executive from Prisma Health with expertise in healthcare administration. He has also served as deputy chief of staff of the Office of the Governor of South Carolina and was a member of the South Carolina House of Representatives.

Dr. Self of Charleston, SC is a pathologist with the Medical University of South Carolina and also serves as Vice Chair of the Self Family Foundation Board of Trustees.

In January, W. M. 'Bubba' Self, Jr. assumed the role as chair of the GGC Foundation Board of Trustees. Self, President and CEO of Greenwood Communities and Resorts, Inc., is a longtime GGC supporter and has served on the Foundation board since 2015.

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Virtual Genetics T

elegenetics, or providing genetic consultations and counseling virtually, is not new to GGC. In 2016, Dr. Mike Lyons, Director of Clinical Services, initiated telegenetics as a way to alleviate the shortage of clinical geneticists, as well as to remove barriers such as travel from families who need genetics care.

As COVID-19 began its spread across the US, outpatient healthcare providers began turning to virtual visits to continue to provide patient care. With GGC's telegenetics system already in place, the Center's transition was relatively smooth.

"Until recently, our telegenetics program had focused on patients in the Florence and Columbia offices, as that is where the greatest need had been," said Lyons.

"So as we began to roll out virtual visits to our other offices, there were definitely some challenges, but having the videoconferencing system and expertise already in place did allow for a smoother transition for our employees."

Shannon Bell, a genetic services coordinator and certified telehealth coordinator has been a valuable resource for the GGC team. Bell has been working with telegenetics since 2016 handling patient visits and ensuring that they run smoothly.

"Until March, patients would come into the office where I would handle all of the technology set up and manage the examination for our off-site clinician," said Bell. "Now we are connecting into the patient's home, so there have been a few technology glitches, and the occasional unusual distraction, but overall the visits have worked extremely well for both our patients and clinicians."

Julia Russo, a genetic counselor in GGC's Greenville office, is new to telegenetics.

"There was some uncertainty at first regarding how well we would be able to communicate with our families and how effective the examinations would be," she said. "But we have found that telegenetics allows us to continue to provide high quality care, make diagnoses, and support our patients in much the same way as before."

And while blood draws aren't possible, GGC's Diagnostic Labs are able to extract DNA from saliva samples for testing. GGC patients who need testing are mailed saliva collection kits with detailed sample collection instructions. They ship the kits back to the lab, so diagnoses are continuing and management plans are being formulated.

"Genetic disorders don't stop during pandemics," said Lyons. "Families continue to rely on GGC for diagnoses and vital medical care. I am so proud of the GGC team for working hard to make sure that services continue, and am grateful to all of the families who have been understanding and adaptable as we moved appointments to virtual visits."

"We look forward to resuming in-person visits as soon as the situation safely allows; however, we have seen that telegenetics is an effective and efficient way of providing care," said Lyons. "I anticipate that our program will continue to grow, even after this pandemic, as we work to meet the needs of our families in creative and innovative ways."

Above: GGC physician assistant, Wesley Patterson, PA-C prepares to see a patient virtually

Top 10 Technology G

GC launched EpiSign in 2019 in collaboration with the laboratory of Dr. Bekim Sadikovic at London Health Sciences Centre in Ontario, Canada.

This methylation signature technology was named as one of the top ten most significant innovations in genomic medicine in 2019 by the National Human Genomic Research Institute.

EpiSign is a novel diagnostic technology that analyzes gene expression using unique methylation or chemical signatures that are present in an increasing number of genetic disorders. GGC is the only lab in the US to offer this state-of-the-art testing.

According to Mike Friez, PhD, Director of Greenwood Diagnostic Labs, “The power of this technology lies in the ability to resolve diagnoses for patients with clinical uncertainty, some of whom have unclear phenotypic features, and others who may have a variant of uncertain significance in an associated gene.”

The original EpiSign test could detect signatures for 19 conditions. As our understanding of DNA methylation has expanded, the second version of the test, which was launched in April of 2020, can now identify unique signatures for 40 different conditions.

Matt Tedder, PhD, a GGC staff scientist says, “It is an honor to be a part of such a novel testing process, and I look forward to seeing how EpiSign continues to provide answers for patients.”

Photo above : Tedder loads the EpiSign chip into an instrument to measure the fluorescent intensity at various sites throughout the genome where methylation occurs.

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GGC-MUSC AFFILIATE Organizations share strengths to improve care for patients across SC

G GC and the Medical University of South Carolina (MUSC) have signed an

affiliation agreement with the goal of providing patients across South Carolina with more accessible, high-quality, coordinated, and cost-effective genetic services through a collaborative approach to providing medical care.

The two entities have worked together informally on clinical consultations, provider education, and research for more than a decade. This affiliation seeks to formalize and expand the depth and breadth of the relationship.

According to MUSC, a partnership with the state’s most advanced and innovative genetic center was an easy choice.

“A lot of people don’t understand what an absolute gem this genetic center is,” said Charles Schulze, Chairman of the MUSC Board of Trustees and Greenwood resident. “They’ve helped almost 100,000 families across the state make incredibly important decisions, unmasked difficultto-diagnose conditions, and have been there for these families every step of the way when faced with good news, or not-so-good news. We are very pleased to be aligning with this like-minded and advanced care provider to help more MUSC patients benefit from GGC’s expertise.”

While there are any number of reasons people may want to learn more about how their genetics may affect their or their loved ones health, all patients want the same thing: high-quality care at the lowest cost and access to the latest technologies, diagnostics and research related to their genetic stories.

The GGC-MUSC affiliation is led by a six-member steering committee comprised of representatives from both organizations. GGC members are (L-R) Neena Champaigne, MD, Director of GGC's Metabolic Treatment Program, Dawn Puderbaugh Hodges, GGC Administrator, and Michael Lyons MD, GGC's Director of Clinical Services.

In the interest of better serving these needs, the initial goals of the partnership include: • • • •

Increasing access to clinical genetic services for MUSC patients and all South Carolinians.

Optimizing the patient journey to improve wait times for appointments and consultations.

Sharing critical resources and expertise where possible to lower costs.

Pursuing workforce development, research, clinical trials, and treatment collaborations.

The partnership has already produced significant results by improving access to genetic services through telemedicine.

Even before the formal affiliation, MUSC supported the development of GGC's telegenetics program, which started in 2016. Over the past few months, when in-person visits had to be paused due to the COVID-19 pandemic, this partnership has been vital to the continuity of patient care. With the affiliation in place, both organizations have been able to learn from each other.

Michael Lyons, MD, GGC's Director of Clinical Services and member of the affiliation steering committee, said, "The current situation has stimulated several discussions about the use of telemedicine, both during this pandemic

New GGCF Leadership

T he GGC Foundation, the 501(c)3 fundraising

arm of the Greenwood Genetic Center, welcomes a new executive director.

William 'Bill' Tiller joined the Foundation in May. Tiller comes to GGC with a long and successful career in fundraising, procuring over $43 million to support nonprofit organizations, primarily in the areas of child health and advocacy. He has successfully led fundraising and development efforts for organizations including The Meyer Center for Special Children, Make-A-Wish Foundation of SC, and most recently, served as President and CEO of the Pediatric Brain Tumor Foundation.

"We are thrilled to have someone of Bill's experience and passion for serving families who are affected by birth defects, disabilities, and autism," said Boo Ramage, outgoing Interim Executive Director of the Foundation.

"I’m deeply grateful and incredibly excited to join the many great people who are the GGC," said Tiller.

"I look forward to working alongside these distinguished professionals, in partnership with donors and investors, and in service to the many children and families who look to the GGC for comfort and care."

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as well as after some normalcy resumes, as a way to increase access to genetic services for patients across MUSC, GGC, and the entire state."

The affiliation has also led to a major change for one GGC satellite office. The Center's Pee Dee area location will be moving into MUSC Health's Florence Medical Center effective July 1. This move will allow for shared clinical space and functionality and will streamline administrative burdens. As a result, GGC's Florence clinic personnel will have more time to focus on patient care with the goal of increasing the number of patients served and decreasing the wait time for appointments.

“A timely and accurate diagnosis, paired with early interventions and therapies, allow many patients to thrive and live functional and productive lives, often exceeding the expectations tied to their diagnoses,” said Steve Skinner, MD, Director of GGC. “Our mission to provide compassionate care and answers for families is being realized every day in Florence and in all of our clinical offices, as well as in our diagnostic and research laboratories. As we look to grow this mission by providing better access to services and more diagnoses through technological advancement, affiliating with the innovative clinicians, scientists, and educators at MUSC is not just the logical next business step for us; it’s the right thing to do for our patients and our state.”

GGC's Florence office will be moving to the MUSC Health -Florence Medical Center campus effective July 1.

David J. Cole, MD, President of MUSC, echoed the benefits of the affiliation, adding, “The genetics field is advancing and changing rapidly due to technology and cutting-edge research. How we treat genetic conditions to optimize and preserve human life in our state is evolving too, and it’s more advantageous and cost-effective to partner rather than go it alone,” he said. “We’re affiliating with the best genetic experts in South Carolina to move health care forward for all. To put it very simply, this partnership will enhance genetic care more efficiently and effectively than anything we could do alone and to date, anything we’ve collectively done together.”

“In this rapidly evolving field of medical genetics, collaborations are essential to ensure that discoveries are efficiently translated to clinical care and all patients receive timely state-of-the-art services,” said Dell Baker, Chair of the GGC Board of Directors. “This affiliation pairs GGC’s immense experience in clinical genetics care and technology advancement with MUSC’s leadership in clinical trials and medical education. We expect this agreement to be not only mutually beneficial to the two organizations but most importantly, to improve the quality of life for the thousands of South Carolinians who are impacted by a genetic diagnosis.”

HIGH-TECH & HIGH-TOUCH Mutual of America Spotlights GGC

M utual of America has been GGC's retirement plan provider since 1991. In the ensuing years, the company has become a close partner with the Center, not only in managing the retirement portfolios and contributions of

our employees, but with a strong presence in the nonprofit community, they have directly supported the mission of GGC. As a result of the close relationship between GGC and Mutual of America, the Center was selected to be one of four clients featured in the company's 2019 Annual Report celebrating their 75th anniversary. The profile highlights the Center's work and mission and features several GGC employees from across the Center who participate in the retirement plan.

"As a state sponsor for Race the Helix and direct contributor to the GGCFoundation, Mutual of America has gone above and beyond our rofessional relationship to directly benefit the patients and families we serve," said Dawn Puderbaugh Hodges, GGC administrator. "They help our employees plan for their futures, but their support has also impacted the future of GGC's clinical services, research, and educational initiatives."

“Mutual of America is inspired by the remarkable, life-changing work being accomplished by Greenwood Genetic Center and its employees," said John R. Greed, Chairman, President and CEO, Mutual of America Financial Group. "We are also especially proud of the strong bond our organizations have formed over the past 30 years, as we both seek to strengthen the communities in which we live and work, and to make a positive, lasting impact on society.”

To see GGC's profile, visit annualreport2019.mutualofamerica.com.

Photo credit: p.2, and above: John Madere Photography

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MPS Society Committed to a Cure Family Grant The National MPS Society has awarded a $100,000 grant to Richard Steet, PhD, Director of Research at GGC. Steet is the lead investigator on the two-year project aimed at improving the diagnosis and hastening treatment for patients with these rare disorders.

Mucopolysaccharidoses (MPS) and related disorders, as a group, affect approximately 1 in 25,000 individuals. The MPS Society provides support resources for families as well as funding for research into this group of disorders which can affect the health, development, quality of life and lifespan of affected individuals. GGC has a long-standing interest in MPS disorders including providing clinical care, diagnostic testing, and research for many of these rare conditions.

Several of these conditions have been added to newborn screening, also known as the heel prick test, that screens all infants at birth for a variety of treatable genetic disorders. The Biochemical Diagnostic Laboratory at GGC is directly involved with secondary testing of newborns that receive a positive screening result.

According to Steet, these newborn screening efforts are identifying new changes within genes related to MPS disorders that aren’t always easily interpreted, leading to uncertainty in the diagnosis.

“Some of these novel changes may be diseasecausing, while others are not,” said Steet. “Not knowing the significance of the gene changes puts patients and families in a state of limbo, uncertain as to whether they should start therapy.”

As more states, including South Carolina, are starting to screen for MPS disorders at birth, Steet and his colleagues in the Research and Diagnostic Divisions at GGC are developing cell- and zebrafish-based models to determine which of these gene changes are false positives and which are true mutations.

“Once the significance of these changes is known, then labs around the world who are running these tests can report their results with confidence, families with false positives can be reassured, and those with true mutations can start life-altering treatment without further delay,” said Steet.

Foundation Supports GGC Research

D

r. Richard Steet’s team at the GGC's JC Self Research Institute has received a share of a $130,000 research grant to fund continuing work on developing a treatment for Mucolipidosis II (ML II).

ML II is a rare genetic disorder that causes skeletal abnormalities and eventually death from cardiac or respiratory failure.

The grant was awarded to Steet by the Yash Gandhi Foundation, a Pennsylvania-based nonprofit organized by Ash and Sonal Gandhi and Kavi Gandhi, the parents and brother of Yash Gandhi. Yash was diagnosed with ML II at eleven months of age and passed away in 2009, shortly before his ninth birthday.

The Foundation hosts fundraising events throughout the year and provides research support for scientists who are working towards a cure for ML II. The current projects at GGC are focused on identifying genes that, when activated, can modify or correct the cellular abnormalities that are seen in patients with ML II. “Identifying these genes will allow us to look for small molecules or drugs that can turn up the expression of these genes and help restore normal function to ML II cells and tissues,” said Steet, Director of Research at GGC. This is the sixth consecutive year that Steet’s laboratory has received funding from the Foundation, and the second since moving his laboratory to GGC.

The current funding will be shared equally with a group at Washington University in St. Louis who are pursuing potential gene therapy studies.

The Foundation has also previously supported GGC's Dr. Sara Cathey with funding in 2012 for a natural history study to better understand the clinical features and disease mechanisms of ML II. Cathey, of GGC's Charleston office, is a worldleading expert in the clinical diagnosis and care of individuals with MLII/III. Steet has a long-standing relationship with the Gandhi family and has attended their annual fundraiser to meet with families and provide a research update.

Yash's brother, Kavi (left), is a rising high school senior who has been recognized for his advocacy on behalf of ML II. Kavi plans to spend the summer of 2020 interning in Steet's laboratory to assist on the project.

“We are grateful to the Gandhi family and the Yash Gandhi Foundation for allowing us to continue this valuable work,” shared Steet. “They are committed to honoring the memory of their son, and we will work to make sure that other families around the world have hope, and eventually a cure, for this devastating disease.”

Top photo: The Gandhi family, Kavi, Ash, Sonal, and Yash in 2007.

Greenwood Genetic Center 11

PATIENT-SPECIFIC

RESEARCH

The JC Self Research Institute in Human Genetics at GGC has a long and successful history of research with a patient-centered mission. With the 2018 addition of the Allin Aquaculture Facility came tools to help us better understand our patients' rare genetic variants, as well as a model organism to allow for treatment-focused projects. Below is a glimpse into some of the recent discoveries and promising work happening each day that is directly benefitting GGC patients and holds life-changing implications for families around the world.

Patient-specific studies initiated

25

With the advances in DNA sequencing technology, we are finding more and more novel variants that are of uncertain significance.

Determining whether these variants are benign or disease-causing is a critical step in making a correct diagnosis and providing hope for a treatment. These 25 projects are designed to determine if a specific variant identified in a single patient is truly disease-causing.

Variants solved

To determine if a genetic variant is disease-causing, scientists create zebrafish models, or avatars, that carry a patient's specific genetic variant. If the zebrafish avatars display clinical features that are similar to or related to those seen in the patient, that supports the idea that the variant is pathogenic or disease-causing. Of the 25 projects initiated to date, 13 variants have been classified as diseasecausing and seven of those have proceeded to further studies.

13 Promising Treatments

5

4

By testing treatments, either in the zebrafish avatars or in patient cells, GGC scientists have identified five promising therapies for four rare disorders.

Because these therapies are already FDA-approved for other conditions, their safety has been well studied and patient tests could begin in the coming months.

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

106 Gregor Mendel Circle Greenwood, SC 29646

www.GGC.org

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