Skip to Main Content

Clemson Center for Human Genetics

  • 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.”