P20GM139769

Cobre in Human Genetics - 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.

Clemson University

THE NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES (NIGMS) SUPPORTS BASIC RESEARCH THAT INCREASES OUR UNDERSTANDING OF BIOLOGICAL PROCESSES AND LAYS THE FOUNDATION FOR ADVANCES IN DISEASE DIAGNOSIS, TREATMENT, AND PREVENTION. NIGMS ALSO SUPPORTS RESEARCH IN SPECIFIC CLINICAL AREAS THAT AFFECT MULTIPLE ORGAN SYSTEMS: ANESTHESIOLOGY AND PERI-OPERATIVE PAIN, CLINICAL PHARMACOLOGY ?COMMON TO MULTIPLE DRUGS AND TREATMENTS, AND INJURY, CRITICAL ILLNESS, SEPSIS, AND WOUND HEALING.? NIGMS-FUNDED SCIENTISTS INVESTIGATE HOW LIVING SYSTEMS WORK AT A RANGE OF LEVELSFROM MOLECULES AND CELLS TO TISSUES AND ORGANSIN RESEARCH ORGANISMS, HUMANS, AND POPULATIONS. ADDITIONALLY, TO ENSURE THE VITALITY AND CONTINUED PRODUCTIVITY OF THE RESEARCH ENTERPRISE, NIGMS PROVIDES LEADERSHIP IN SUPPORTING THE TRAINING OF THE NEXT GENERATION OF SCIENTISTS, ENHANCING THE DIVERSITY OF THE SCIENTIFIC WORKFORCE, AND DEVELOPING RESEARCH CAPACITY THROUGHOUT THE COUNTRY.

93.859 - Biomedical Research and Research Training

National Institute of General Medical Sciences (NIGMS) [HHS - NIH]

South Carolina United States

State-Wide

Centers of Biomedical Research Excellence (COBRE) Phase 1 (P20 - Clinical Trial Optional) (PAR-19-313)

Amendment Since initial award the total obligations have increased 514% from $1,766,912 to $10,847,075.