Core B: Molecular Biol. Genetics Core

自1977年芝加哥大学糖尿病中心首次获得资助以来，分子生物学和遗传学核心实验室一直在运作，核心名称略有变化，但主要强调分子生物学和最近的遗传学。该核心帮助独立资助的研究人员，他们有兴趣在糖尿病和其他代谢疾病以及糖尿病并发症的研究中使用分子和遗传方法。对遗传服务的需求不断增长，导致该核心主要侧重于提供针对糖尿病遗传研究的服务，包括研究设计、功效计算、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，也为在美国和国际上进行糖尿病遗传研究的糖尿病研究人员服务。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，重点将继续放在遗传研究上，包括全基因组关联研究和设计，包括全外显子组和全基因组测序方法。我们还建议开发“糖尿病相关数据库”，所有人都可以访问，例如与单基因型糖尿病相关的突变列表和与多基因型糖尿病相关的变异。虽然本核心的重点主要是遗传学，但我们认识到遗传学研究导致生物学研究的事实。因此，我们建议提供BAC重组工程作为一种新的服务，研究人员在体内和体外糖尿病基因的生物学。贝尔博士和考克斯博士将继续担任该核心的主任和联合主任。Marcelo Nobrega博士将加入他们，担任联合主任，领导BAC重组工程服务。这个小组将由流行病学领域的领导人提供咨询（Hanis和Ober），遗传分析（Abney，Di Rienzo，Nicolae，Pritchard和Stephens），生物统计学（尼古拉和斯蒂芬斯），计算（网格和云计算-福斯特和格罗斯曼）和基因组学和系统生物学（白色）确保核心服务处于复杂疾病的遗传和基因组研究的最前沿，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.