Administrative Supplement Request for U54NS093793 based on PA-18-591 https://grants.nih.gov/grants/guide/pa-files/PA-18-591.html Title: A global matchmaking platform for collaborative research on rare and undiagnosed diseases Project Summary: Rare disease patients often experience painstaking diagnostic and therapeutic odysseys. State-of-the-art genome sequencing technologies may provide answers for ~30-40% of these cases, but many are often left with a handful of candidate genetic variants that require experimental follow-up studies to establish causality. In this proposal, we will build a centralized website and database called ModelMatcher (www.modelmatcher.net/) that can be used by clinicians and other stakeholders of undiagnosed disease research (e.g. patients, family members, patient organizations, funding agencies, pharma) to identify basic scientists who are interested in collaborations to facilitate diagnostic, translational and therapeutic research to support the mission of the Undiagnosed Diseases Network and beyond. Basic scientists can register their information regarding their contact, experimental systems used in their labs, areas of expertise, and genes/pathways of interest in ModelMatcher, and clinical users can mine this database to identify experts who can perform functional studies on disease candidate variants identified in patients? genomic DNA. Such registries can also be useful for other stakeholders of rare disease research to identify a group of scientists who are willing to work collaboratively on translational and therapeutic research for a specific rare disease that does not have efficient treatments. Besides sparking studies of specific genes and diseases, this first-of-its- kind global registry of scientists with diverse expertise linked to medical genetics databases will create an unprecedented opportunity to build strong collaborative networks and initiatives far beyond what we envision.
Administrative Supplement Request for U54NS093793 based on PA-18-591 https://grants.nih.gov/grants/guide/pa-files/PA-18-591.html Title: A global matchmaking platform for collaborative research on rare and undiagnosed diseases Project Narrative: The goal of this proposal is to facilitate collaborations between scientists and clinicians to diagnose, unravel the mechanisms and develop therapies for rare and undiagnosed diseases by establishing a foundational informatics tool that is open to the public. This platform will be useful for the rare and undiagnosed disease research communities as well as for many clinicians, scientists and other stakeholders of biomedical sciences.
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