GGC and Clemson University lead NIH's first Center for Biomedical Research Excellence in Human Genetics

04.13.21

New $10.6M GGC/Clemson research initiative seeks genetic answers to human diseaseCOBRE

Greenwood, SC (April 13, 2021) – Genetics defines 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 and the Greenwood Genetic Center 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.

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, PhD, Self Family Endowed Chair in Human Genetics and Director of the Clemson Center for Human Genetics based in Greenwood, said, “Imagine having the opportunity to immediately sequence the genome of a baby and being able to quickly identify their susceptibility to disease. We can’t change their genes, but we can change their environment, significantly improving preventative care. If we know the susceptibility, we can make non-pharmaceutical interventions to improve many people’s quality of life. And of course, knowing the underlying biology can help guide pharmaceutical intervention as well.”

Mackay 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).

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.”

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.

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.

Photo: L-R Anholt, Mackay, and Steet (credit: Clemson University)

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Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two. At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words. She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it. Then she suddenly stopped all of that. At her 2 year old check-up, the pediatrician referred us to BabyNet, SC’s early interve...

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