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New $10.6M research initiative seeks genetic answers to disease

Staff Report //April 14, 2021//

New $10.6M research initiative seeks genetic answers to disease

Staff Report //April 14, 2021//

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The National Institutes of Health has tasked Clemson University with unlocking genetic codes through a new $10.6 million grant to establish the Center of Biomedical Research Excellence in Human Genetics in collaboration with the Greenwood Genetic Center. The objective is to learn more about the genetic networks that determine susceptibility to cancers, hypertension, high cholesterol, arthritis, diabetes, Alzheimer’s disease and numerous other ailments, according to a university news release.

The award funds an initial five-year phase of a Center of Biomedical Research Excellence, which can continue for 15 years, positioning the Clemson-Greenville Genetic Center collaboration as a global leader in the scientific advancement of human genetics, the news release said. The NIH research center of excellence program provides a long-term investment in the advancement of medical research around a central theme. This is NIH’s first center specifically focused on human genetics.

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 with Greenwood Genetic Center 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,” Richard Steet, director of research at Greenwood center, said in the news release. “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 early infant death. Her work on rare diseases largely involves the generation of zebrafish models to investigate gene function and disease pathogenesis, the release said. 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, according to the release.

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 release said.

“GGC is honored to be part of this first-ever NIH COBRE in the field of human genetics,” said Dr. Steve Skinner, Greenwood Genetic Center 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.”