Core B: Molecular Biol. Genetics Core

分子生物学和遗传学核心实验室自1977年芝加哥大学糖尿病中心首次获得资助以来一直在运作，核心实验室的名称略有变化，但主要侧重于分子生物学和最近的遗传学。该中心帮助那些对在糖尿病和其他代谢性疾病以及糖尿病并发症研究中使用分子和遗传方法感兴趣的独立资助的研究人员。对基因服务日益增长的需求导致该核心主要专注于提供针对糖尿病基因研究的服务，包括研究设计、能量计算、样本收集、基因分型和测序以及数据分析。该中心不仅为DRTC研究人员服务，也为糖尿病研究人员提供服务，这些研究人员在全美和国际上开展糖尿病基因研究。该中心提供服务，并提供咨询和实践培训。在这一竞争性更新中，重点将继续放在基因研究上，包括全基因组关联研究和设计，结合全外显子组和全基因组测序方法。我们还建议开发可供所有人访问的“糖尿病相关数据库”，例如与单基因糖尿病和多基因糖尿病变异相关的突变列表。虽然这个核心的重点主要是遗传学，但我们认识到这样一个事实，即遗传学研究导致了生物学研究。因此，我们建议为研究体内和体外糖尿病基因生物学的研究人员提供BAC重组工程作为一项新的服务。贝尔博士和考克斯博士将继续担任这一核心的董事和联席董事。马塞洛·诺布雷加博士将作为联席主任加入他们的行列，领导BAC重组工程服务。该小组将由流行病学(Hanis和Ober)、遗传分析(Abney、Di Rienzo、Nicolae、Pritchard和Stephens)、生物统计学(Nicolae和Stephens)、计算(网格和云计算-Foster和Grossman)以及基因组和系统生物学(White)领域的领导者提供建议，以确保核心服务处于复杂疾病的遗传和基因组研究的前沿，并快速适应用户需求。

The Molecular Biology and Genetics Core Laboratory has been in operation since the University of Chicago Diabetes Center was first funded in 1977 with minor changes in the name of the core but with a major emphasis on molecular biology and more recently genetics. This Core helps independently funded investigators who are interested in using molecular and genetic approaches in the study of diabetes and other metabolic diseases as well as diabetic complications. The growing demand for genetic services has resulted in this Core largely focusing on providing services directed towards genetic studies of diabetes including study design, power calculations, sample collection, genotyping and sequencing, and data analysis. The Core serves not only DRTC investigators but also diabetes investigators carrying out genetic studies of diabetes throughout the United States and internationally. The Core offers services as well as providing advice and hands-on training. In this competing renewal the focus will continue to be on genetic studies including genome-wide association study and design incorporating whole-exome and whole-genome sequencing approaches. We also propose to develop "diabetes-related databases" that will be accessible to all such as lists of mutations associated with monogenic forms of diabetes and variants with polygenic forms of diabetes. While the focus of this Core is primarily genetics, we are cognizant of the fact that genetic studies lead to biological studies. Thus, we propose to offer BAC recombineering as a new service for investigators studying the biology of diabetes genes in vivo and in vitro. Drs. Bell and Cox will continue to serve as Director and Co-Director of this Core. Dr. Marcelo Nobrega will join them as a Co-Director leading the BAC recombineering service. This group will be advised by leaders in the field of epidemiology (Hanis and Ober), genetic analysis (Abney, Di Rienzo, Nicolae, Pritchard and Stephens), biostatistics (Nicolae and Stephens), computation (grid and cloud computing - Foster and Grossman) and genomics and systems biology (White) to ensure that Core services are at the forefront of genetic and genomic studies of complex diseases and quickly adapts to users needs.