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.
WHYY Radio's "The Pulse" Discovering new diseases on a diagnostic odyssey
Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs
A white paper describing the establishment of the Undiagnosed Diseases Network International (UDNI) which is modeled in part after the NIH UDP. Read for more information about the UDNI.
The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension
Article in The Journal of the American Medical Association (JAMA) describing the new UDN.