The Undiagnosed Diseases Network, funded through NIH Common Fund, is designed to accelerate discovery and innovation in the way we diagnose and treat patients with previously undiagnosed diseases. The specific goals of the network are to: (1) improve the level of diagnosis and care for patients with undiagnosed diseases through the development of common protocols designed by a large community of investigators; (2) facilitate research into the etiology of undiagnosed diseases, by collecting and sharing standardized, high-quality clinical and laboratory data including genotyping, phenotyping, and documentation of environmental exposures; and (3) create an integrated and collaborative community across multiple clinical sites and among laboratory and clinical investigators prepared to investigate the pathophysiology of these new and rare diseases.
In 2008, the NIH Undiagnosed Diseases Program (UDP) was organized and established by the National Human Genome Research Institute (NHGRI), the National Institutes of Health (NIH) Office of Rare Diseases Research (ORDR) and the NIH Clinical Center to help provide diagnosis and treatment for patients with unknown disorders.
In 2012, building on the early successes of the UDP, NIH extended the program into a network of seven clinical sites. These clinical sites together with a UDN Coordinating Center and other Core Laboratories comprise the Undiagnosed Diseases Network (UDN) and will serve to test whether this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic medical centers around the United States.
The UDN will promote the use of genomic data in disease diagnosis and will engage basic researchers to elucidate the mechanisms underlying the diseases so that treatments may be identified. The program will also train clinicians in the use of contemporary genomic approaches so that genomic methods can increasingly be brought to bear on myriad diseases.
Gene Function Studies to Investigate Rare and Undiagnosed Diseases
The current list of genes and diseases of interest to the Undiagnosed Diseases Network (UDN) for the FOA RFA-RM-15-004 [grants.nih.gov].
For information about the UDP, the NIH clinical site of the UDN, see: Undiagnosed Diseases Program
Last Updated: December 14, 2017