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COBRE in Human Genetics

COBRE 在人类遗传学中的应用

基本信息

批准号：
10569653
负责人：
Robert R. H Anholt
金额：
$ 219.82万
依托单位：
CLEMSON UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-02-10 至 2026-01-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10569653
关键词：
Advisory Committees Affect Animal Model Animals Assistantship Award Bioinformatics Biological Models Biomedical Research Cell Culture Techniques Cells Cellular biology Centers of Research Excellence Collaborations Complement Complex Computational Biology Core Facility Data Development Developmental Biology Diagnosis Disease Epigenetic Process Evaluation Extramural Activities Face Faculty Funding Future Gene Expression Regulation Genetic Genetic Research Genetic Transcription Genetic Variation Genomic medicine Genomics Goals Grant Health Human Human Genetics Human Genome Individual Institution Interdisciplinary Study Knowledge Leadership Maps Mentors Modeling Modernization Molecular Molecular Genetics Patients Phenotype Pilot Projects Population Rare Diseases Research Research Activity Research Infrastructure Research Personnel Research Project Grants Research Support Resources Risk Role Scientist South Carolina Statistical Models Structure Symptoms Testing Training United States National Institutes of Health Universities Untranslated RNA Variant animal model development candidate identification causal variant developmental genetics dimensional analysis disease phenotype disorder risk exome sequencing forward genetics functional genomics genetic information genetic variant genome sequencing genomic data graduate student high dimensionality human disease innovation interest member multidisciplinary nature center neurogenetics pleiotropism predictive modeling professor programs rare genetic disorder rare variant recruit risk prediction statistics therapy development trait whole genome

项目摘要

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.

总结