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News / 10.30.20

The Common Metabolic Diseases Knowledge Portal comes online

By Broad Communications

A project of the Accelerating Medicines Partnership, the portal brings genetic and computational data on five diseases together in one place

A new open-access scientific resource to facilitate research into five complex disease areas, the Accelerating Medicines Partnership in Common Metabolic Diseases Knowledge Portal (AMP-CMDKP) is now available at cmdkp.org. The CMDKP offers tools and visualizations allowing both molecular biologists and bioinformatic analysts to explore genetic data for insights into disease processes and potential therapeutic hypotheses.

The resource includes genetic associations, epigenomic annotations, and computational predictions across five common disease areas:

  • type 2 diabetes
  • type 1 diabetes
  • cardiovascular disease
  • cerebrovascular disease
  • sleep and circadian disorders

and over 300 related traits, such as biomarkers, anthropometric measurements, and disease complications.

The CMDKP evolves from four separate Knowledge Portals (KPs) developed over the past several years:

Each of the four existing KPs is an established resource and hub for results representation for its respective research community. Type 1 diabetes is a new disease area introduced within the CMDKP.

“The prototype pioneered for type 2 diabetes can be easily expanded and adapted to other metabolic diseases,” said Jose Florez, chief of the Endocrine Division and Diabetes Unit at Massachusetts General Hospital and an institute iember at and leader in the Diabetes Research Group at the Broad Institute of MIT and Harvard. “The new CMDKP embraces the same paradigm to assemble and analyze genomic data informed by physiology, democratize complex genetics, and catalyze novel discovery.”

The CMDKP allows researchers for the first time to access and compare datasets across all five of these disease areas. It also offers disease-specific visualizations and informational content tailored by and for each research community. The CMDKP is powered by the Human Genetics Amplifier (HuGeAMP), a data and software platform for storing, processing, and presenting genetic and genomic data. HuGeAMP facilitates the extension over time of the CMDKP to more traits and diseases, other data types, new access mechanisms, and additional computational methods.

“The evolution of this resource from a focus on type 2 diabetes to an array of metabolic diseases reflects the reality that these conditions co-occur in many individuals,” said Philip Smith, deputy director of the Division of Diabetes, Endocrinology, and Metabolic Diseases at the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). “This expanded resource will provide a powerful tool to help identify common drivers of metabolic disease.”

The CMDKP is developed by a research and software team led by Noël Burtt and associate member Jason Flannick at Broad. Data and supporting methods are contributed by the Diabetes EpiGenome Atlas at the University of San Diego, the European Bioinformatics Institute, the University of Michigan, and scientific collaborators worldwide.

This effort is supported by the Accelerating Medicines Partnership in T2D (AMP-T2D), which is a public-private partnership between the National Institute of Diabetes and Digestive and Kidney Diseases of the National Institutes of Health, with industry and not-for-profit organizations, and is managed through the Foundation for the National Institutes of Health (FNIH).

Adapted from a press release issued by AMP-T2D.