Expanding partnerships bode well for South Carolinians see more
Greenwood Genetic Center (GGC) and The Medical University of South Carolina (MUSC Health) have signed a letter of intent to expand their longtime collaboration to improve access to high-quality, coordinated and cost-effective genetic services and their recent affiliation to drive innovation in the genetics field. A definitive agreement and approval by both organizations’ boards is still required and anticipated by the end of the year.
The deeper relationship between GGC and MUSC Health presents opportunities to further improve access and enhance patient care, increase access to a broader range of educational opportunities for MUSC students, and position the organizations to take advantage of future strategic research initiatives. The two entities have worked together on clinical consultations, provider education, and research for more than a decade. According to MUSC, adding to the depth and breadth of the almost two-year old formal affiliation with the state’s most advanced and innovative genetic center was an easy choice.
“We are so pleased to continue aligning and innovating with this like-minded and advanced care provider for the benefit of the state’s citizens,” said James Lemon, D.M.D., chairman of the MUSC Board of Trustees. “We are excited for what the future holds as we move forward together.”
MUSC Board of Trustees vice-chairman and Greenwood resident, Charles Schulze, agreed. “I live in Greenwood, and I’ve said for years that a lot people don’t understand what an absolute gem GGC is. They’ve helped about 100,000 families across the state make incredibly important decisions, discovered difficult-to-diagnose conditions, and have been there for these families every step of the way.”
With recent and rapid growth in the understanding of how genetics impacts health throughout the lifespan, access to genetic information is increasingly important for individuals to make informed healthcare and lifestyle decisions. With a primary goal of improving access for patients and their families, this expanded relationship between GGC and MUSC aims to leverage both organizations’ strengths and expertise. Together they will provide high-quality care and access to the latest technological advances in diagnostics, research, and treatment. In the interest of better serving these needs, the expanded goals of the relationship include:
- Co-developing a strategic plan for genetic services.
- Continuing to increase access to clinical genetic services for MUSC patients and all South Carolinians.
- Building on collaborative telehealth platforms to improve wait times for appointments and consultations.
- Sharing critical resources and expertise where possible to lower costs.
- Pursuing additional workforce development, research, clinical trials and treatment collaborations.
- Advancing precision health and jointly serving as leaders in this innovative, dynamic area of health care.
Nearly every child in South Carolina who has been diagnosed with a genetic birth defect, developmental delay or other hereditary disorder has already benefited from GGC expertise, due to the center’s depth of care for children with rare conditions and commitment to new technologies and diagnostics. GGC, a nonprofit institute centered on research, clinical genetic services, diagnostic laboratory testing and educational programs and resources, is focused on compassionate patient care and innovative scientific advancement. This deepened relationship with MUSC will mean GGC can expand their purview to include additional adult genetics services to help serve patients with cancer, cardiovascular disease, and other conditions.
“The Greenwood Genetic Center places great importance on collaborations that improve the quality of care and benefit the patients and families we serve,” said Steve Skinner, MD, GGC Director. “Over the past two years, our affiliation with MUSC has expanded projects such as telemedicine that have had a significant and lasting impact on access to genetics care. With the further expansion of this relationship, GGC can have an even stronger impact on patient care through a connection to MUSC’s broad subspecialties network and clinical trial experience, while GGC can enhance MUSC’s ability to provide pediatric genetics care and state-of-the art clinical genetic testing. It’s a win-win for both institutions, but most importantly, this collaboration is a win for the people of South Carolina who need genetic care, information, and resources.”
David J. Cole, M.D., FACS, MUSC president, echoed the benefits of the affiliation offered by Skinner, adding, “Two years ago, we started to align the national caliber genetic expertise of GGC- with our outstanding academic medical faculty and specialty care providers,” he said. “It’s been making a real difference for our patients. We’re moving health care forward for all, bringing the best of both organizations so that we can create opportunities for more South Carolina citizens to understand, plan for and manage their health and wellness. By further connecting our work and accountability to each other, MUSC and GGC stand poised to deliver on precision health and even better patient care, research innovations and unique learning opportunities for our students.”
“The Greenwood Genetic Center and MUSC individually provide exceptional care to patients across South Carolina, each with their own unique areas of expertise,” said Dell Baker, chairman of the GGC Board of Directors. “By further combining our strengths and building upon the other’s needs, this expanded relationship between our organizations has South Carolina poised as a leader in providing the best and most advanced genomic medicine for its citizens.”
Genetic Center a key initiative at Clemson University see more
The sequencing of the human genome in 2000 gave rise to the vision of personalized medicine. Realizing the importance of this landmark achievement, Clemson University established Human Genetics as a major pillar of its long-term strategic ScienceForward plan. This vision was realized in 2016 with philanthropic support of Self Regional Healthcare and the Self Family Foundation, leading to the construction of Self Regional Hall on the Partnership Innovation campus of the Greenwood Genetic Center (GGC).
Self Regional Hall is a 17,000 sq. ft. state-of-the-art facility designed to provide a collaborative environment that is conducive to spontaneous interactions among students and faculty. The Clemson Center for Human Genetics was formally inaugurated in the facility on August 8, 2018.
In the short period of three years, the Center for Human Genetics has flourished under the leadership of its inaugural director, Dr. Trudy Mackay.
The Center started with two faculty — Dr. Mackay and spouse and long-term collaborator, Dr. Robert Anholt — two staff scientists, and two doctoral students. With strong support from Clemson University, the Center recruited four assistant professors from Yale University, Stanford University, the University of Chicago, and the University of North Carolina at Chapel Hill. This enabled the Center to expand rapidly to six faculty and a cohort of 16 graduate students on the Greenwood campus and eight affiliated members on the main campus of Clemson University.
In 2021, the Clemson University Center for Human Genetics, in collaboration with the GGC, received a grant from the National Institutes of Health for over $13.5 million total cost to establish a Center of Biomedical Research Excellence (COBRE) in Human Genetics to promote the professional development of young investigators.The Center’s Goals for Genetic Research
The goals of the Clemson Center are two-fold:
1. to leverage comprehensive systems genetic approaches and comparative genomics to elucidate fundamental principles of the genetic underpinnings of human complex traits, including disease risk.
2. to promote precision medicine by developing advanced mathematical models to predict disease risk and assess therapeutic benefits based on genetic and environmental factors.
To enable these activities, the Center has established the most advanced genomics facility in South Carolina with capabilities for short- and long-read DNA sequencing as well as analyses of gene expression networks in single cells. The Center also contains a microscopy facility, a bioinformatics facility, and its own high performance computing cluster for analyses of large datasets.
Faculty in the Center use comparative genomics approaches to gain insights in human disorders. Such approaches include studies on the fruitfly (Drosophila) model, which enables sophisticated genetic experimentation, zebrafish (in collaboration with the GGC), which is a powerful model for developmental genetics, and human cell lines. These systems have complementary advantages, so combined insights from studies on these systems can be applied to patients and human populations.
Studies in the Center focus on substance use disorders — including cocaine, methamphetamine, and alcohol — cardiovascular disease, cancer, and neurodegenerative disorders. Most genetic studies to date have focused on genes that code for proteins, structural components of our cells and enzymes that catalyze reactions that sustain intermediary metabolism and the formation of macromolecules, such as our DNA.
However, protein coding genes comprise only ~2% of the human genome and there is a growing realization that non-protein coding elements of the genome play an important role in gene regulation in health and disease. Thus, a major focus of the Center’s studies is dedicated to elucidating the contributions of noncoding elements of the genome to disease manifestation. Another major focus of faculty in the Center is to develop computational methods to predict disease susceptibility based on genetic and environmental information, a critical prerequisite for personalized medicine. The Center also interacts closely with the GGC to obtain insights in the pathology of rare pediatric diseases.
The Clemson Center for Human Genetics seeks to develop local, regional, national, and international collaborations to advance human genetics and is currently part of a large international consortium funded by the European Commission to study the genetics of susceptibility to environmental toxins. As part of a major research university, the Center is also strongly committed to educating the next generation of human geneticists by providing educational opportunities for high school students, their teachers, undergraduate and graduate students, postdoctoral fellows and visiting scientists, and to promote public understanding of human genetics through community outreach.
GHGC earns major grant see more
The National MPS Society has awarded a $100,000 grant to Heather Flanagan-Steet, PhD, Director of Functional Studies at the Greenwood Genetic Center (GGC). Flanagan-Steet will lead the two-year project designed to better understand the biology of skeletal disorders in patients with these rare disorders and identify new therapies.
Mucopolysaccharidoses (MPS), as a group, affect approximately 1 in 25,000 individuals. These progressive diseases cause widespread damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system, leading to a shortened lifespan. Skeletal abnormalities are a common feature of MPS disorders and can lead to pain, impaired growth, and limited mobility.
Flanagan-Steet’s work will involve the use of zebrafish models of three MPS disorders, MPS II (Hunter syndrome), MPS IVA (Morquio syndrome), and ML II (I-cell disease), to pinpoint common pathways involved in the bone and cartilage disease seen in patients with MPS.
“Because zebrafish and humans share 70% of the same DNA, we can mimic MPS in the zebrafish, allowing us to study how the patient mutations actually cause the clinical features of these disorders,” said Flanagan-Steet. “The fish provide a really powerful tool both to help us understand exactly how these skeletal issues develop and then to assess which treatments may improve or prevent those issues. By directly comparing the mechanisms in these three different disease models, we hope to identify therapeutic approaches that may benefit multiple diseases.”
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.
“We are so grateful for the support of the MPS Society, an organization led by families who are dedicated to raising awareness, supporting research, and ultimately finding cures for these disorders,” said Flanagan-Steet. “We are excited to advance this work and contribute to improving the quality of life for all individuals and families impacted by MPS disorders.”
About the MPS Society
The National MPS Society exists to cure, support, and advocate for MPS and ML. Their mission serves individuals, families, and friends affected by Mucopolysaccharidoses and Mucolipidosis through supporting research, supporting families, and increasing public and professional awareness. For more information on MPS and ML, please visit www.mpssociety.org.
Greenwood's Kay Self leading efforts to advance Greenwood community see more
The lack of reliable broadband service in parts of Greenwood became more apparent than ever this past year when schools and businesses quickly migrated to remote platforms with minimal time for in-depth planning, let alone infrastructure upgrades. Fortunately, help is on the horizon from VisionGreenwood, an established community partner dedicated to making Greenwood the best place in which to live, work and raise a family.
Kay Self, Executive Director for VisionGreenwood, explained that the recently launched “Closing the Gap” Speed Test, which was developed by the nonprofit through a public-private collaboration, will be used to collect real-time internet speed data from Greenwood residents over the next four to six weeks. With data in hand, VisionGreenwood will be able to apply for state and federal grants to help fund local internet infrastructure improvements.
“High-speed internet is no longer optional. It is critical for expanding educational and economic opportunities, especially for those in remote locations. By ensuring every Greenwood resident and business has access to broadband, we are positioning our community for success,” said Self.
JIm Pfeiffer, VisionGreenwood’s Board Chairman and Self Regional Healthcare President and CEO, noted “For more than a year now, we’ve seen first-hand just how important broadband internet is to our students, to remote work, and to telemedicine availability. In response, VisionGreenwood developed a Broadband Task Force to make sure Greenwood stays ahead of the curve in this area. The goal is to expand broadband internet connectivity throughout the entire county.”
Pfeiffer went on to say, “By mid-August, the Greenwood Broadband Task Force should have the necessary data to pinpoint areas that are in most need of reliable, affordable access to broadband service.”
While the name VisionGreenwood may be new to Greenwood County and the Upstate, the 501(c)(3) organization is simply reintroducing itself. In fact, the newly rebranded organization has a rich history in Greenwood. VisionGreenwood evolved from the Foundation for a Greater Greenwood County, Inc., which was created more than 20 years ago to support the former Greenwood Partnership Alliance’s charitable operations with a focus on community and workforce development. Since its inception, the non-profit has invested more than $2.9 million into the community by supporting initiatives that provide economic prosperity and enhance the growth and success of Greenwood.
“After thoughtful consideration, we decided to rebrand the foundation in 2021 to better reflect our purpose. Everything we do is grounded in our strategic long-term vision. By intent and design, VisionGreenwood continues to be a community partner that is focused on Greenwood’s future and its economic growth and development,” said Self. “We are now more determined than ever to see that Greenwood emerges as one of the top living and working communities in South Carolina.”
VisionGreenwood’s Core Areas of Focus
The stated mission of VisionGreenwood is “Providing leadership to enhance the quality of life in Greenwood through strategic long-term vision and collaborative community development initiatives.” To carry out its mission, VisionGreenwood’s Board has identified core areas of focus for development of the Greenwood community: Technology and Innovation, Education, City and Retail Development, Life Sciences and Biotechnology, and Medical Innovation District. Each area of focus has its own distinct initiatives.
In addition to the expansion of broadband coverage, another notable initiative launched this year is “The Brew,” described by Self as an “ecosystem” for locals to find resources and gain support for their businesses and trades. “The Brew is really where VisionGreenwood sees Greenwood’s collective creativity and its community collaborations collide,” said Self.
Part of a larger Upstate program developed to promote job growth through entrepreneurism, The Brew provides a venue for entrepreneurs, start-up businesses, and craftsmen to get community feedback about their business plans, challenges, and accomplishments. VisionGreenwood launched the Greenwood Chapter of “The Brew” in collaboration with Uptown Greenwood and the Greenwood Area Small Business Development Center.
“It takes a concerted effort to sustain new business ideas, so we explored effective programs in place throughout the state. We are pleased to be a part of the Regional Brew Program that successfully brings economic successes to communities in Anderson, Greenville, Greer and Spartanburg, and now Greenwood,” said Self.
Central to VisionGreenwood’s work is helping strategic partnerships continue to flourish. Perhaps Greenwood’s biggest claim to fame is its international reputation as a hub for innovation in the field of medical genetics.
“The Greenwood Genetic Center, together with the Clemson University Center for Human Genetics, is among the greatest strengths and most unique assets in our community. VisionGreenwood is proud to be associated with the ongoing development of the Greenwood Genetic Center Partnership Campus,” said Self, who serves on the Board of SCBIO, the statewide, not-for-profit, public/private life sciences industry association and economic development organization formed to actively promote, build, support, expand, and convene South Carolina’s life sciences industry.
“Quality of life is the cornerstone of VisionGreenwood’s plan of work,” said Self. “We are committed to supporting the development of neighborhoods that provide entertainment, shopping, and dining, along with quality healthcare, world-class education, and employment – all necessary attributes for a thriving community.”
Pfeiffer added, “Above all, VisionGreenwood exists to make Greenwood a community of choice — one where people want to come and want to stay, whether young professionals or retirees.”
In June 2021, VisionGreenwood rolled out a refreshed website showcasing the many ways in which the organization is working to better the community. To learn more, visit www.VisionGreenwood.org and be sure to follow @VisionGreenwoodSC on Facebook, Instagram, or LinkedIn.
About Vision Greenwood
VisionGreenwood is a 501(c)(3) non-profit organization with deep roots in the Greenwood community. Throughout the past 20 years, VisionGreenwood (formerly known as the Foundation for a Greater Greenwood County, Inc.) has invested over $2.9 million into the community by supporting collaborative community development initiatives that provide economic prosperity and enhance the growth and success of Greenwood. The Foundation was originally created to support the former Greenwood Partnership Alliance’s charitable operations with a focus on community and workforce development. The Foundation became a stand-alone organization in 2020 and was rebranded as VisionGreenwood in 2021. By intent and design, VisionGreenwood continues to be a community partner that is focused on Greenwood’s future, its economic growth and development, and its quality of life.
Greenwood Genetic Center, Clemson share important genetic research news see more
Genetic networks define an individual’s unique characteristics that – coupled with lifestyle habits and other environmental factors – determine susceptibility to cancers, hypertension, high cholesterol, arthritis, diabetes, Alzheimer’s disease and numerous other ailments. The National Institutes of Health (NIH) has tasked Clemson University with unlocking these genetic codes through a new $10.6 million grant to establish the Center of Biomedical Research Excellence (COBRE) in Human Genetics in collaboration with the Greenwood Genetic Center (GGC).
The award funds an initial five-year phase of a COBRE, which can continue for 15 years, positioning the Clemson-GGC collaboration as a global leader in the scientific advancement of human genetics. The NIH COBRE program provides a long-term investment in the advancement of medical research around a central theme. This is NIH’s first COBRE specifically focused on human genetics.
Trudy Mackay, the Self Family Endowed Chair of Human Genetics, will lead the COBRE in Human Genetics along with Robert Anholt, provost’s distinguished professor of genetics and biochemistry, and Richard Steet, director of research at Greenwood Genetic Center (GGC).L-R: Robert Anholt, Trudy Mackay, Richard Steet
The Greenwood Genetic Center provides clinical services to more than 5,000 patients annually, and diagnostic laboratory testing, educational programs and research in medical genetics. Clemson’s Center for Human Genetics has collaborated closely with GGC since opening in 2018.
“Merging the expertise of Clemson’s genome science with the patient-driven focus of the Greenwood Genetic Center is very powerful,” Steet said. “The theme of this COBRE is comprehensive – covering common disorders like cardiovascular disease, cancer, neurodegenerative diseases as well as very rare genetic disorders. We take a lot of pride in that breadth, as it gives our collaborations and the efforts of this COBRE room to grow.”
At the heart of the COBRE in Human Genetics is a robust mentoring platform for early-career faculty. Leading scientists at several of the nation’s premier laboratories will serve as project mentors, including St. Jude Children’s Research Hospital, the National Cancer Institute, Duke University and the Center for Comparative Genomics and Bioinformatics at The Pennsylvania State University.
Initially, the COBRE in Human Genetics will feature four core research projects and numerous pilot projects. The following investigators lead the four core projects:
Andrei Alexandrov, assistant professor of genetics and biochemistry at Clemson, will analyze human nuclear long non-coding RNAs to identify potential targets for new treatments for cancer and viral diseases. A former scientist at Yale University, Alexandrov developed an ultra-high throughput method that enables the discovery of genes involved in human RNA surveillance.
Heather Flanagan-Steet, director of functional studies at the Greenwood Genetic Center, will study genetic mutations that can cause neurological and cognitive impairment, skeletal abnormalities and even early infant death. Her work on rare diseases largely involves the generation of zebrafish models to investigate gene function and disease pathogenesis. She pioneered the use of zebrafish to model rare inherited diseases.
Miriam Konkel, assistant professor of genetics and biochemistry at Clemson, will work to understand why and how transposable elements, sometimes called “jumping genes,” can move around the human genome and alter genetic expression. The movement of transposable elements may contribute to neurodegenerative diseases like Alzheimer’s.
Fabio Morgante, assistant professor of genetics and biochemistry at Clemson, will analyze genetic data from 500,000 people as part of a project to develop phenotypic models that can predict cardiovascular disease. His models will take into account ancestry, ethnicity and environmental factors that can affect disease susceptibility.
The COBRE in Human Genetics will support numerous pilot projects related to human genetics and expand its research as the COBRE progresses and attracts additional investigators.
The team is planning an annual symposium and a yearly retreat for the COBRE in Human Genetics participants to share knowledge and ideas. Already, renowned scientists worldwide, including members of the National Academy of Sciences, are participating in a monthly lecture series organized by the Center for Human Genetics.
“GGC is honored to be part of this first-ever NIH COBRE in the field of human genetics,” said Steve Skinner, MD, GGC Director. “By combining the Greenwood Genetic Center’s 47 years of expertise in providing quality medical genetics services with the research talent and computational power of the Clemson Center for Human Genetics, patients and families impacted by both common and rare genetic diagnoses will reap the benefits.”
“This grant truly raises the profile of both Clemson University and the Greenwood Genetic Center, and I am proud that our collaboration has the potential to make a difference for so many people. It is powerful to think of how many lives might be saved by learning more about the genetics behind some of these devastating diseases,” said Clemson University President Jim Clements.
Research reported in this publication is supported by the National Institute of General Medical Sciences of the National Institutes of Health under Award Number P20GM139769. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
Study shows diagnostic test effective for providing conclusive genetic results see more
GREENWOOD, SC – The Greenwood Genetic Center (GGC), working with collaborators at Lawson Health Research Institute in Canada and the University of Amsterdam, published a study this month that provides clinical validation of EpiSign, a molecular genomics test that diagnoses rare, heritable neurodevelopmental conditions. GGC has been the sole US laboratory provider of this novel diagnostic test since 2019.
EpiSign analyzes changes that affect gene expression rather than the gene sequence. Researchers have found that certain genetic disorders display unique genomic patterns, or epigenetic signatures, allowing for a diagnosis through EpiSign when traditional genetic testing has been uninformative.
The laboratory testing in the US is performed at GGC while the analysis of the results is performed using machine learning at Lawson where the EpiSign Knowledge Database was developed. This database compiles information on rare genetic diseases using laboratory analyses of the epigenetic signature from patients with suspected genetic abnormalities.
The current study analyzed data from early EpiSign testing to validate the ability of the novel test to make a diagnosis. Epigenetic signatures have been identified for over 40 genetic disorders.
The analysis studied EpiSign test performance and diagnostic yield in 207 subjects from two different cohorts. A targeted group included patients with previous genetic findings that were ambiguous or inconclusive. The second screening group was those with clinical findings consistent with hereditary neurodevelopment syndromes but with no previous genetic findings.
“Of the 207 subjects tested, 57 were positive for a diagnostic episignature including 48 in the targeted cohort, and 9 in the screening cohort. Only four remained inconclusive after EpiSign analysis,” says Dr. Bekim Sadikovic, lead researcher at Lawson and Scientific and Clinical Director of the Verspeeten Clinical Genome Centre at London Health Sciences Centre (LHSC). “This gives us strong evidence for the clinical use of EpiSign, as well as the ability to provide conclusive findings in the majority of subjects tested.”
While currently there are limited treatment options associated with many of these conditions, providing a diagnosis can help physicians better predict the course of the disease, and allows for better planning and support for the patient. EpiSign is the only test in the world that has been clinically validated for epigenetic testing for these types of genetic disorders, and in the US, is only available through GGC.
“Patients with rare diseases often wait years and undergo numerous exams and tests before receiving a correct diagnosis, if one is found at all,” says Matthew Tedder, PhD, staff scientist at the Greenwood Genetic Center, who was involved in the study. “EpiSign provides an additional high-yield diagnostic tool for clinicians to include in their evaluation of patients with undiagnosed diseases, providing better medical management for patients and hope for their families.”
The study, “Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders", is published in February’s Genetics in Medicine.
For more information about EpiSign, visit, www.ggc.org/EpiSign.
Greenwood, South Carolina's globally recognized genetics center is further investing... see more
Greenwood Genetic Center has invested more than $1.75 million in laboratory equipment and a new on-site aquaculture facility that the organization says is the largest zebrafish facility in the state.
The new equipment includes a NovaSeq DNA sequencing system and a confocal microscopy system. The Illumina NovaSeq 6000 System offers high-throughput sequencing across a broad range of applications. The NovaSeq also meets the research needs of both the center and the Clemson Center for Human Genetics. Read the full news release here.