The Sleep Disorder Knowledge Portal (SDKP) is part of the Common Metabolic Diseases Knowledge Portal (CMDKP), which aggregates and analyzes genetic association results, epigenomic annotations, and results of computational prediction methods to provide data, visualizations, and tools in an open-access portal. The aim of the CMDKP is to facilitate research on the molecular basis of complex diseases, including type 1 and type 2 diabetes, cardiovascular and cerebrovascular disease, and sleep disorders.
The CMDKP is supported by funding from the Accelerating Medicines Partnership and is being developed by a team of scientists and software engineers at the Broad Institute, the University of Michigan, University of Oxford, and many other collaborators from academia, industry, and non-profit organizations worldwide.
Data in the Sleep Disorder Knowledge Portal
UK Biobank is a national and international health resource with unparalleled research opportunities, open to all bona fide health researchers. UK Biobank aims to improve the prevention, diagnosis and treatment of a wide range of serious and life-threatening illnesses – including cancer, heart diseases, stroke, diabetes, arthritis, osteoporosis, eye disorders, depression and forms of dementia. It is following the health and well-being of 500,000 volunteer participants and provides health information, which does not identify them, to approved researchers in the UK and overseas, from academia and industry. The results in the Portal are summary statistics of genetic association studies performed in the UK Biobank for self-reported or accelerometry-assessed sleep traits.
The International Sleep Genetic Epidemiology Consortium (ISGEC) is a collaborative effort to perform meta-analyses of multiple Genome-Wide Association Studies to identify novel loci impacting sleep apnea and sleep traits. Ongoing ISGEC efforts include studies on sleep apnea and sleep architecture phenotypes measured by overnight polysomnography, as well as self-reported and actigraphy-assessed sleep behavior traits.
The Sleep Disorder Knowledge Portal
Researchers are building a database linking DNA sequence, functional and epigenomic information, and clinical data from studies on sleep measures and creating analytic tools to analyze these data. The data and analytical tools are accessible to academic and industry researchers, and all interested users, to identify and validate changes in DNA that influence sleep quality, quantity, and timing.
The Knowledge Portal framework is being developed as part of the Accelerating Medicines Partnership, a public-private partnership between the National Institutes of Health (NIH), the U.S. Food and Drug Administration (FDA), 10 biopharmaceutical companies, and multiple non-profit organizations that is managed through the Foundation for the NIH (FNIH). AMP seeks to harness collective capabilities, scale, and resources toward improving current efforts to develop new therapies for complex, heterogeneous diseases. The ultimate goal is to increase the number of new diagnostics and therapies for patients while reducing the time and cost of developing them, by jointly identifying and validating promising biological targets for several diseases, including type 2 diabetes.
The Sleep Disorder Knowledge Portal is intended to serve three key functions:
- To be a central repository for large datasets of human genetic information linked to sleep measures and related traits.
- To function as a scientific discovery engine that can be harnessed by the community at large, and assist in the selection of new targets for drug design.
- Eventually, to facilitate the conduct of customized analyses by any interested user around the world, doing so in a secure manner that provides high quality results while protecting the integrity of the data.
The Sleep Disorder Knowledge Portal is intended to be secure, compliant with pertinent ethical regulations, accessible to a wide user base, inviting to researchers who may want to contribute data and participate in analyses, organic in the continuous incorporation of scientific advances, modular in their analytical capabilities and user interfaces, automated, rigorous in the quality of data aggregation and returned results, versatile, and sustainable.
Sleep Disorder Knowledge Portal (SDKP) and Data Coordinating Center (DCC) Team
|Project directors||Noël Burtt
|Creative lead||Maria Costanzo|
|Software engineers||Marc Duby
|Computational biologists||Marcin von Grotthuss
|Project managers||Lizz Caulkins