Genetic basis of type 2 diabetes (T2D) and T2D-related traits
The Broad Institute Diabetes Research Group is composed of individuals with multi-disciplinary backgrounds in fundamental biology, human genetics, computational and statistical methodologies, software engineering, and clinical medicine. Our goals include:
Using human genetics to identify genes and variants associated with T2D risk and to characterize T2D genetic architecture
Developing a computational and software infrastructure to aggregate, analyze, and interpret large-scale genomic datasets for T2D and related metabolic traits
Building a user-friendly web portal to query and interact with the data
Ultimately, the group aspires to apply this knowledge to define new and improved therapeutic targets for T2D. To achieve these goals, the group is a central partner in several large international consortia, including:
T2D-GENES (Type 2 Diabetes Genetic Exploration by Next-generation sequencing in multi-Ethnic Samples)
MAGIC (Meta-Analyses of Glucose and Insulin-related traits Consortium)
GENIE (Genetic Exploration of Nephropathy – an International Effort) and the Juvenile Diabetes Research Foundation Diabetic Nephropathy Collaborative Research Initiative
These initiatives are unlocking the genetic basis of diabetes and related traits through use of the latest technologies in genomic sequencing and analysis as well as development of advanced analytical methods. More broadly, these consortia have led the charge in the T2D genetics community to serve as a paradigm for data sharing and collaboration. As active members in GoT2D, T2D-GENES, AMP-T2D and SIGMA T2D, the group has forged collaborations with the other major T2D genetics consortia (KORA, ESP, LuCamp, CHARGE, and others) to assemble the world’s largest whole-exome dataset for T2D and related traits.
Finally, as part of the Accelerating Medicines Partnership for Common Metabolic Diseases (AMP-CMD), the Diabetes Research Group is building the Common Metabolic Diseases Knowledge Portal (CMDKP) and serving as the AMP-CMD Data Coordinating Center. A dedicated team is developing infrastructure software, mechanisms to take in and aggregate data, novel tools and methods for genetic analysis, and visual representations of data, and partnering with international teams to federate data from across the world. The group’s mission is to provide data and tools via the CMDKP to promote better understanding and treatment of type 2 diabetes and its complications.