SCBIO | An Inside Look at the Clemson Center for Human Genetics

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The sequencing of the human genome in 2000 gave rise to the vision ofpersonalized medicine. Realizing the importance of this landmark achievement, Clemson University established Human Genetics as a major pillar of its long-term strategicScienceForwardplan. 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 theGreenwood Genetic Center(GGC).

Self Regional Hall is a 17,000 sq. ft. state-of-the-art facility designed to provide acollaborative environmentthat is conducive to spontaneousinteractions among students and faculty. TheClemson Center for Human Geneticswas 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 goals of the Clemson Center are two-fold:

1. to leverage comprehensivesystems genetic approaches andcomparative 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 Centers 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.

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SCBIO | An Inside Look at the Clemson Center for Human Genetics