COBRE in Human Genetics

COBRE 在人类遗传学中的应用

基本信息

批准号：
10090709
负责人：
Robert R. H Anholt
金额：
$ 176.69万
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/10090709
关键词：
Advisory Committees Affect Animal Model Animals Assistantship Award Bioinformatics Biological Models Biomedical Research Cell Culture Techniques Cells Centers of Research Excellence Collaborations Complement Complex Computational Biology Core Facility Data Development Developmental Cell 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 Lead Leadership 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 Research Training 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 base 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会影响世界人口的很大一部分。阐明自然存在的遗传变异影响疾病风险的机制需要多学科定量，人群，分子，细胞和发育遗传学方面的专业知识；统计，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。我们提出了一个中心人类遗传学中的生物医学研究卓越（圆锥）构成了独特的伙伴关系克莱姆森大学人类遗传学和格林伍德遗传中心。研究人类遗传学中的毛病将专注于理解通过哪种分子遗传变异会影响罕见和常见疾病。人类遗传学的毛病将支持初级调查人员的四个研究项目，以应对面临的几项杰出挑战现代人类遗传学，包括人类长期非编码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节的影响，动物模型的发展罕见疾病，并将上下文依赖性效应纳入预测复杂性状的统计模型大规模遗传变异数据的表型。由初级调查人员领导的八个试点项目将为人类遗传学的毛病贡献研究主题的额外广度和深度。研究已建立的外部NIH资助的研究人员以及三个PI将考虑项目领导者。这研究和试点项目领导者将得到一个行政核心的支持，该核心提供了广泛的范围专业发展活动。人类遗传学的毛病将建立内部和外部咨询委员会并实施全面的评估计划。这些项目将得到最先进的基因组学和生物信息学研究核心将受益于另外两个克莱姆森大学克莱姆森大学和格林伍德遗传中心的Cobres以及其他教职员工。毛绒人类遗传学具有强大的机构支持，承诺聘请其他教师来扩展在这一支持期间，研究活动的范围，并提供研究生研究支持研究项目的助手。鞋垫项目负责人进行的研究在人类遗传学中，将提供有关分子遗传变异的机制的新知识影响健康和疾病中复杂特征的差异，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，并为未来的制度发展奠定了基础培训赠款和计划项目。该毛线将加强生物医学研究基础设施克莱姆森大学并增加了南卡罗来纳州NIH资助的科学家的数量。