Human Genetics and Clinical Research Core

SuIWMARY项目(见说明)：基因和基因组方法在确定构成人类健康和疾病基础的新生物学方面卓有成效。在奥布莱恩中心的支持下，外显子组测序的发展大大加快了过去5年的进展，这是一种快速且廉价地对基因组中所有编码蛋白质的基因进行测序的方法。疾病基因发现的成功需要不同的技能和临床医生、基础科学家和生物统计学家之间的有效合作。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、确保研究得到充分支持的研究设计专业知识、确保以实验室为基础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可靠。耶鲁大学在每个领域都开发了专业知识，因此，耶鲁大学的研究人员一直处于这一努力的前沿，在孟德尔病和复杂特征的基因寻找方面的领导者跨越了不同的学科。在过去的5年里，耶鲁·奥布莱恩中心培育的项目已经发现了一系列肾脏疾病的新疾病基因，更多的发现项目正在与NIDDK社区的领先研究人员一起进行。该核心将继续为发现之路上的所有步骤提供关键的基础设施支持，包括HIC协议的开发、患者招募、工具生产以及下一代DNA测序和其他大型数据集的分析。这一核心将为学生、研究员和教职员工提供有效的培训，并将帮助新的研究人员参与翻译研究。

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.