GREGoRi Technology Integration Center (U01, Clinical Trials Optional)

The National Institutes of Health (NIH) is seeking applications for the establishment of the GREGoRi Technology Integration Center, which aims to accelerate a paradigm shift in rare disease diagnosis by reimagining the tools, molecular technologies, and analytical approaches used to identify the causal gene(s) and/or variant(s) underlying rare genetic disorders. The center will enable the development of standards and best practices for applying new and emerging molecular methods in rare disease diagnosis. A major deliverable of the center will be a multidimensional dataset that can be used for the development and benchmarking of novel tools and strategies that facilitate rare disease diagnosis. • The GREGoRi initiative seeks to accelerate a paradigm shift in rare disease diagnosis. • The center will develop standards and best practices for applying new and emerging molecular methods in rare disease diagnosis. • A major deliverable of the center will be a multidimensional dataset for the development and benchmarking of novel tools and strategies. • The center will interact closely with other members of the GREGoRi Research Consortium and with NIH staff. • The center will be required to submit a Data Management and Sharing Plan and annual Research Performance Progress Reports.