# COBRE in Human Genetics

> **NIH NIH P20** · CLEMSON UNIVERSITY · 2022 · $2,198,162

## Abstract

SUMMARY
Common and rare genetic diseases affect a large fraction of the world’s population. Elucidating the
mechanisms by which naturally occurring genetic variants affect disease risk requires multidisciplinary
expertise in quantitative, population, molecular, cellular and developmental genetics; statistics, bioinformatics
and computational biology; and functional genomics in cell culture and animal models. We propose a Center of
Biomedical Research Excellence (COBRE) in Human Genetics that constitutes a unique partnership between
the Clemson University Center for Human Genetics and the Greenwood Genetic Center. Research in the
COBRE in Human Genetics will focus on understanding the genetic, genomic, and epigenetic mechanisms by
which molecular genetic variation affects rare and common diseases. The COBRE in Human Genetics will
support four research projects from junior investigators that tackle several of the outstanding challenges facing
modern human genetics, including the roles of human long non-coding RNAs in risk for human disease, the
effects of structural variation on disease phenotypes and gene regulation, development of animal models for
rare diseases, and incorporating context-dependent effects into statistical models predicting complex trait
phenotypes from large scale genetic variation data. Eight Pilot Projects led by junior investigators will
contribute additional breadth and depth of research topics to the COBRE in Human Genetics. The Research
Project Leaders will be mentored by established external NIH-funded researchers as well as the three PIs. The
Research and Pilot Project Leaders will be supported by an Administrative Core that provides a wide range of
professional development activities. The COBRE in Human Genetics will establish both Internal and External
Advisory Committees and implement a comprehensive Evaluation Plan. The projects will be supported by a
state-of-the-art Genomics and Bioinformatics Research Core that will benefit two other Clemson University
COBREs as well as other faculty at Clemson University and the Greenwood Genetic Center. The COBRE in
Human Genetics has strong institutional support, with commitments to hire additional faculty to expand the
scope of the research activities during this period of support, and to provide graduate student research
assistantships to support the research projects. The research performed by the Project Leaders of the COBRE
in Human Genetics will provide new knowledge of the mechanisms by which molecular genetic variation
affects variation in complex traits in health and disease, enhance the national reputation of Clemson University
as a research and training center in human genetics, and set the stage for future development of institutional
training grants and program projects. This COBRE will strengthen the biomedical research infrastructure of
Clemson University and increase the number of NIH-funded scientists in the state of South Carolina.

## Key facts

- **NIH application ID:** 10348697
- **Project number:** 5P20GM139769-02
- **Recipient organization:** CLEMSON UNIVERSITY
- **Principal Investigator:** Robert R. H Anholt
- **Activity code:** P20 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $2,198,162
- **Award type:** 5
- **Project period:** 2021-02-10 → 2026-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10348697

## Citation

> US National Institutes of Health, RePORTER application 10348697, COBRE in Human Genetics (5P20GM139769-02). Retrieved via AI Analytics 2026-05-21 from https://api.ai-analytics.org/grant/nih/10348697. Licensed CC0.

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