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Clemson Center for Human Genetics

  • sam patrick posted an article
    Genetic Center a key initiative at Clemson University see more

    Compliments of Scribble

    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.

     September 08, 2021
  • sam patrick posted an article
    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.

  • sam patrick posted an article
    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).

    Scientists standing in the lab. 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.

  • sam patrick posted an article
    State-of-the-art facility equipped with world-class labs, technologically advanced instrumentation see more

    The Clemson Center for Human Genetics officially opened for business Tuesday evening, celebrating with an enthusiastic gathering of supporters who met with scientists and toured the state-of-the-art facility.

    Piloted by a cadre of researchers equipped with world-class laboratories and technologically advanced instrumentation, Clemson’s Center for Human Genetics has successfully landed on the global stage – both in talent and scope. The center, which is part of Clemson’s College of Science, is dedicated to advancing knowledge of the fundamental principles by which genetic and environmental factors determine and predict healthy traits and susceptibility to disease.

    The center is housed in Self Regional Hall with eight laboratories and several classrooms, conference rooms and offices for faculty and graduate students. The 17,000-square-foot building is located on the campus of the Greenwood Genetic Center. During Tuesday’s event, the labs and hallways were jammed with guests.

    Trudy Mackay, director of the Center for Human Genetics, is recognized as one of the world’s leading authorities on the genetics of complex traits. Mackay, the Self Family Endowed Chair in Human Genetics and Professor of Genetics and Biochemistry, is a fellow of the American Association for the Advancement of Science. She has also been elected to the American Academy of Arts and Sciences, the Royal Society of London and the National Academy of Sciences.

    Mackay is joined at Clemson by Robert Anholt, Provost’s Distinguished Professor of Genetics and Biochemistry and director of Faculty Excellence Initiatives in the College of Science. Anholt is also a member of the American Association for the Advancement of Science.

    “This is an exciting time in the field of human genetics and its connection to health and well-being,” said Mackay, who has won numerous international awards, including the prestigious Wolf Prize, published more than 200 papers and trained graduate and postdoctoral students who have gone on to represent the next generation of geneticists. “We now know that all of us are 99.9 percent identical in our DNA, but that 10th of a percent difference translates to 3 million small genetic differences between any two of us. The challenge now is to understand how these molecular differences in DNA affect our susceptibility to diseases like cancer and heart ailments.”

    Tuesday’s event was the culmination of 13 years of planning, collaboration and diligence. The naming of Self Regional Hall recognized the ongoing support from Self Regional Healthcare, which has contributed $5.6 million to the facility. In addition, the $4 million endowed chair held by Mackay was funded equally by the Self Family Foundation and the state of South Carolina.

    “We are confident that our investment in the Self Family Endowed Chair for Human Genetics will pay huge dividends in furthering research to prevent, treat and cure genetic disorders,” said Frank Wideman, president of the Self Family Foundation. “We believe the synergy brought about by the intellectual capital of the Clemson Center for Human Genetics and that of the Greenwood Genetic Center has unlimited potential.”

    Clemson University President James P. Clements praised the Self family, the city of Greenwood, Greenwood County, the Greenwood Commissioners of Public Works and the Greenwood Partnership Alliance for their generous support.

    “Our partnership with the Greenwood Genetic Center, along with the amazing support we are receiving from Self Regional Healthcare and the Self Family Foundation, will allow our faculty researchers to translate their findings into tangible treatment options more quickly and efficiently,” Clements said. “The work being done here has the potential to make a huge difference in improving lives, which is at the core of Clemson’s mission as a land-grant university.”

    Mackay and Anholt came to Clemson from North Carolina State, where they had conducted research for a combined 55 years. Most of Mackay’s new Clemson team also hail from N.C. State, including staff scientists Richard Lyman and Roberta Lyman, postdoctoral research associate Chad Highfill and doctoral students Brandon Baker and Sneha Mokashi. Rebecca Jones, who graduated with a bachelor’s degree in genetics from Clemson in May 2018, will be joining the team as a graduate student. Karl Kelly will continue to provide support as director of operations.

    The Center for Human Genetics will work in partnership with the Greenwood Genetic Center, a nonprofit institute that focuses on clinical genetic services, diagnostic laboratory testing, educational programs and research. Mackay and her team will interact regularly with Greenwood Genetic Center personnel.

    “This is an outstanding example of how the power of partnership can collectively harness talent to improve lives,” said Cynthia Y. Young, founding dean of Clemson’s College of Science. “Together, we have put a stake in the ground to develop a globally recognized center of excellence around human genetics anchored by some of the world’s most talented scientists.”

    Dr. Steve Skinner, director of the Greenwood Genetic Center, said that the impact of the collaboration between the two centers will be transformative for genomics medicine.

    “With the research expertise of Drs. Mackay and Anholt, and GGC’s illustrious history of providing clinical care and human genetics advancements, our combined efforts will advance the understanding of human diseases and behaviors, as well as guide us toward potential treatments to improve the quality of life for those impacted by neurodevelopmental and other genetic disorders.”

    Skinner cited the recent joint acquisition of a NovaSeq 6000 DNA sequencer from Illumina as proof of the potency of the partnership.

    “The NovaSeq is the most powerful sequencer available, and we have the only one in South Carolina,” Skinner said. “This instrument not only increases our DNA sequencing capacity and ability to diagnose complex patients though whole genome sequencing, it also provides genomic data to advance Clemson’s studies and GGC’s zebrafish models with the ultimate goal of improving patient health and quality of life.”

    The main goals of the Center for Human Genetics include:

    • Leverage comprehensive genetic approaches and comparative genomics to explain the fundamental principles of human complex traits, including disease risk.

    • Promote precision medicine.

    • Develop local, regional, national and international collaborations to advance human genetics.

    • Educate the next generation of human geneticists.

    • Promote public understanding of human genetics through community outreach.

    Much of the above will be accomplished by studying the inner workings of an insect that is smaller than a grain of rice. The fruit fly Drosophila melanogaster has turned out to be a remarkably powerful gene discovery system for large-scale, population-based genetic studies. About 70 percent of fly genes have human counterparts, which enable the construction of contextual genetic networks. Using the fly as their catalyst, Mackay and her team will seek new breakthroughs in the treatment of addiction, glaucoma, alcohol and fatty liver disease, oxidative stress, heavy metal toxicity, aging and neurological disorders.

    “I am proud to lead Clemson’s Center for Human Genetics in Greenwood,” Mackay said. “We will have a strong connection to the main campus at Clemson to strengthen our research and academic core. Together with our partners, we will accomplish a great deal in the coming years.”