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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.

概括常见和罕见的遗传疾病影响着世界上很大一部分人口。阐明自然发生的遗传变异影响疾病风险的机制需要多学科的支持定量、群体、分子、细胞和发育遗传学方面的专业知识；统计学、生物信息学和计算生物学；以及细胞培养和动物模型中的功能基因组学。我们建议建立一个中心人类遗传学领域的生物医学卓越研究 (COBRE) 构成了克莱姆森大学人类遗传学中心和格林伍德遗传中心。研究领域 COBRE 人类遗传学将重点通过以下方式了解遗传、基因组和表观遗传机制：分子遗传变异影响罕见和常见疾病。人类遗传学中的 COBRE 将支持初级研究人员的四个研究项目，解决所面临的几个突出挑战现代人类遗传学，包括人类长链非编码RNA在人类疾病风险中的作用，结构变异对疾病表型和基因调控的影响，动物模型的开发罕见疾病，并将上下文相关效应纳入预测复杂性状的统计模型中来自大规模遗传变异数据的表型。由初级研究人员领导的八个试点项目将为人类遗传学领域的 COBRE 贡献更多广度和深度的研究主题。研究项目负责人将接受 NIH 资助的外部研究人员以及三位 PI 的指导。这研究和试点项目领导者将得到行政核心的支持，该核心提供广泛的专业发展活动。人类遗传学中的 COBRE 将建立内部和外部咨询委员会并实施全面的评估计划。这些项目将得到以下机构的支持最先进的基因组学和生物信息学研究核心将使另外两所克莱姆森大学受益 COBRE 以及克莱姆森大学和格林伍德遗传中心的其他教员。 COBRE 在人类遗传学拥有强大的机构支持，并承诺聘请更多教师来扩大研究范围在此支持期间的研究活动范围，并为研究生提供研究支持研究项目的助学金。 COBRE 项目负责人进行的研究人类遗传学将提供分子遗传变异机制的新知识影响健康和疾病的复杂特征的变化，提高克莱姆森大学的国家声誉作为人类遗传学的研究和培训中心，并为机构的未来发展奠定了基础培训补助金和计划项目。该 COBRE 将加强生物医学研究基础设施克莱姆森大学并增加美国国立卫生研究院资助的南卡罗来纳州科学家的数量。