Locate healthcare providers and researchers who have knowledge of your condition.
Navigate the process of trying to obtain a diagnosis.
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) pursues two goals:
- To provide answers to patients with mysterious conditions that have long eluded diagnosis
- To advance medical knowledge about rare and common diseases
The program is trans-NIH in scope. 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. Of the total number of cases that are referred to this program,a very limited number will be invited to proceed in the study following careful application review by the program's medical team. In general, it takes 8-12 weeks for the UDP to evaluate an application, and the waiting list for admission is 2-6 months.
Please note that UDP participants may receive consultation regarding their treatment when they arrive for a UDP evaluation, but treatment is usually not provided as a component of the program. The treatment recommendations that NIH clinicians may offer remain the responsibility of the patient and the clinician who refers that patient to the UDP.
For more information please call (866) 444-8806
(Note: The toll-free number is for U.S. callers only. Those calling from outside the U.S. should dial 301-496-4000 and ask for the Undiagnosed Diseases Program Information Line. Long-distance phone charges will apply.)
Please do not send Undiagnosed Diseases Program-related email or submit medical records to the NIH Office of Rare Diseases Research. All communication should be handled through the NIH Undiagnosed Diseases Program staff at the NIH Clinical Center.
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. Recently, the Common Fund released a Funding Opportunity Announcement (FOA) to solicit applications for a Coordinating Center for the expanded UDN. Another FOA has been released to solicit gene function project applications.
Information for patients (PDF - 90 KB)
Information for health care providers (PDF - 93 KB)
UDP Press Releases
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
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.