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Human Genetics and Clinical Research Core

人类遗传学和临床研究核心

基本信息

批准号：
8899507
负责人：
RICHARD P LIFTON
金额：
$ 29.97万
依托单位：
YALE UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2008
资助国家：
美国
起止时间：
2008-09-01 至 2016-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8899507
关键词：
African African American Area Biological Markers Biology Biometry Clinical Medicine Clinical Research Code Collaborations Communities Companions Complex Consent Forms Contracts Copy Number Polymorphism Country Cyst DNA Sequence Data Data Set Databases Development Discipline Disease End stage renal failure Ensure Environment Equilibrium Faculty Fostering Functional disorder Funding Genes Genetic Genetic Markers Genome Genomic approach Genomics Goals Grant Health Human Human Biology Human Genetics Human Resources Hypertension Hypotension Individual Informatics Institutional Review Boards Instruction Kidney Kidney Diseases Kidney Failure Knowledge Liver diseases Maintenance Mendelian disorder Methods Molecular Mutation National Institute of Diabetes and Digestive and Kidney Diseases Nephrotic Syndrome Patient Recruitments Patients Physicians Polycystic Kidney Diseases Production Proteins Protocols documentation Renal glomerular disease Research Research Design Research Infrastructure Research Personnel Resources SNP genotyping Scientist Services Sodium Chloride Sorting - Cell Movement Students Study Subject Targeted Resequencing Technology Training Translational Research Variant base beneficiary biobank blood pressure reduction blood pressure regulation clinical investigation clinical phenotype cohort cost density exome sequencing experience gene discovery genetic analysis genetic approach genome analysis genome sequencing glomerular function high throughput analysis human disease insight next generation non-genetic novel novel strategies research study skills success technology development tool trait

项目摘要

PROJECT SUIWMARY (See instructions): Genetic and genomic approaches have been highly productive in identifying new biology that underlies human health and disease. Advances in the last 5 years have been dramatically accelerated by the development, with support of the O'Brien Center, of exome sequencing, a method for rapiidly and inexpensively sequencing all the protein-coding genes in the genome. Success in disease gene discovery requires diverse skill sets and effective collaborations among clinicians, basic scientists, and biostatisticians. Necessary tools include expertise in clinical medicine, knowledge of the regulatory environment to permit development of appropriate HIC protocols, expertise in study design to ensure that studies are adequately powered, technological expertise to ensure that lab-based approaches remain at the cutting edge of the field, and first-rate biostatistical analysis of results to ensure that findings are valid and robust. Yale has developed expertise in each of these areas and as a consequence Yale investigators have been at the forefront of this endeavor with leaders in gene finding for Mendelian disease and complex traits across diverse disciplines. In the last 5 years, projects fostered by the Yale O'Brien center have led to discovery of new disease genes for a wide array of kidney diseases, with many more discovery projects underway with leading investigators from the NIDDK community. This core will continue to provide key infrastructure support for all steps along the path to discovery, including development of HIC protocols, patient recruitment, tools production and analysis of next generation DNA sequencing and other large data sets. This core will provide effective training for students, fellows and faculty and will help engage new investigators in translational research.

PROJECT SUIWMARY（参见说明）：遗传和基因组方法在识别人类健康和疾病的新生物学方面非常有效。在奥布莱恩中心的支持下，外显子组测序的发展极大地加速了过去五年的进步，外显子组测序是一种快速且廉价地对基因组中所有蛋白质编码基因进行测序的方法。疾病基因发现的成功需要临床医生、基础科学家和生物统计学家之间的多样化技能和有效合作。必要的工具包括临床医学专业知识、允许制定适当的 HIC 方案的监管环境知识、确保研究充分动力的研究设计专业知识、确保基于实验室的方法保持在该领域前沿的技术专业知识，以及对结果进行一流的生物统计分析以确保研究结果有效和稳健。耶鲁大学在这些领域都积累了专业知识，因此，耶鲁大学的研究人员一直处于这一努力的最前沿，在孟德尔疾病和跨学科复杂性状的基因发现方面处于领先地位。在过去 5 年中，耶鲁大学奥布莱恩中心发起的项目已经发现了多种肾脏疾病的新疾病基因，来自 NIDDK 社区的主要研究人员正在进行更多的发现项目。该核心将继续为发现之路上的所有步骤提供关键基础设施支持，包括 HIC 协议的开发、患者招募、下一代 DNA 测序和其他大型数据集的工具生产和分析。该核心将为学生、研究员和教师提供有效的培训，并有助于吸引新的研究人员参与转化研究。