Please do not send Undiagnosed Diseases Program-related email or submit medical records to the NIH Office of Rare Diseases Research. All communication about applications should be handled through the NIH Undiagnosed Diseases Network staff at the Harvard Coordinating Center.
Some patients wait years for a definitive diagnosis. Using a unique combination of scientific and medical expertise and resources at the National Institutes of Health (NIH), the Undiagnosed Diseases Program (UDP), a clinical site of the Undiagnosed Diseases Network (UDN), pursues two goals:
- To provide answers to patients with mysterious conditions and
- To learn more about rare and common diseases
The program is funded by the NIH Common Fund. It is organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center. Many medical specialties from other NIH research centers and institutes contribute expertise needed to conduct the program, including endocrinology, immunology, oncology, dermatology, dentistry, cardiology, and genetics, which are represented among the dozens of participating senior attending physicians who participate in the program's clinical research.
A longstanding medical condition that eludes diagnosis by a referring physician can be considered undiagnosed and may be of interest to this clinical research program.Expansion of the Undiagnosed Diseases Program
The NIH announced in July, 2012, that the Undiagnosed Diseases Program would be expanded to include academic medical centers across the country and that this expansion (now referred to as the Undiagnosed Diseases Network – UDN) would be funded by the NIH Common Fund.
On July 1, 2014, NIH announced the selection of 6 medical centers around the country to join the NIH Clinical Center’s Undiagnosed Diseases Program to contribute local medical expertise to the UDN. On September 16, 2015, NIH announced the opening of the UDN Patient Portal. A list of additional announcements can be found on NHGRI’s UDN webpage.
To learn more about the Undiagnosed Diseases Network, click here.
Frequently Asked Questions (FAQ) (Coming soon)
Information for health care providers (PDF - 52 KB)
UDP Press Releases
Baylor College of Medicine, Medical College of Wisconsin to conduct DNA sequencing for Undiagnosed Diseases Network
UDP Announces First New Disorder Discovery
NIH Undiagnosed Diseases Program documents two-year pilot as clinic of last resort
NIH Launches UDP
Press Release: NIH Launches Undiagnosed Diseases Program (PDF - 51.8 KB)
Transcript: NIH Undiagnosed Diseases Program media telebriefing (PDF-79KB)
Other News of Interest
Place for Hope – NIH Record describes experience of an NIH Clinical Center Patient
NY Times Magazine describes the experiences of a UDP patient
For more information about the UDN or application process, individuals can contact the UDN Coordinating Center by:
- Toll-free from USA, Canada, Mexico: 1-844-RINGUDN (746-4836)
- From all other countries: 1-617-432-2344
The following groups are not affiliated with NIH. These links are provided as a resource to the community. The groups listed may be able to provide information to those whose medical conditions remain undiagnosed.
In Need of Diagnosis (INOD) provides help and support to individuals with undiagnosed conditions.
Syndromes Without A Name (SWAN) is a supportive organization for families of children who have undiagnosed, unnamed conditions, or who are still looking for a diagnosis.