Undiagnosed Diseases

Program Snapshot

With advances in genomic sequencing and medicine, it is now possible to examine patients with rare genetic diseases at a level that allows physicians and scientists to find the “needle in a haystack”. Often times, one small change (mutation) in a genetic sequence can cause an individual to develop disease symptoms. To increase the capacity for this type of research, the Undiagnosed Diseases Program (UDP) is establishing an Undiagnosed Diseases Network (UDN) to diagnose both rare and new diseases. Furthermore, through the support of mechanistic studies, the Network hopes to aid in management strategies for the patients. This program will advance laboratory and clinical research, building upon the experience and expertise of the NIH Intramural UDP and similar programs, to enhance coordination and collaboration among laboratory and clinical researchers across multiple centers. The Network will benefit from having the capacity to share data and approaches widely throughout the scientific community.

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New Funding Opportunity Announcement!

The Undiagnosed Diseases Program is seeking applications for Clinical Sites for an Undiagnosed Diseases Network (UDN). Please see the full details here.

New Funding Opportunity Announcement
(Administrative Supplement)!

The Undiagnosed Diseases Program is seeking applications for gene function studies to investigate rare and undiagnosed diseases. Please see the full details here.

Undiagnosed Diseases

View the recording of the NIH Teleconference to Solicit Information on Expanding the Undiagnosed Disease Program by clicking here.

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Division of Program Coordination, Planning, and Strategic Initiatives  •  National Institutes of Health  •  Bethesda, Maryland 20892