NIH Office of Rare Diseases Research (ORDR) - Undiagnosed Diseases Program

Undiagnosed Diseases Program

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 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.