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, an Undiagnosed Diseases Network (UDN) is being established across the country 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 Undiagnosed Diseases Program (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.

Read more…

Quick Links

The National Human Genome Research Institute UDP website
The NIH Office of Rare Diseases UDP website
Rare and Undiagnosed Diseases: Where Pediatricians Can Go for Reliable Information and Resources

Program Highlights

Expanding the limits of modern medicine. The NIH Undiagnosed Diseases Network will address an abundance of mystery cases. Read a news feature about patients and the network here