Clinical Research

See Also: Undiagnosed Diseases Network On Other Sites: Undiagnosed Diseases Network
At the NIH Common Fund

Undiagnosed Diseases Program
At the NIH Office of Rare Diseases
NIH Undiagnosed Diseases Program

Overview

The NIH Undiagnosed Diseases Program (UDP) is part of an NIH Common Fund initiative that focuses on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Md. It was 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 the expertise needed to conduct the program, including endocrinology, immunology, oncology, dermatology, dentistry, cardiology and genetics, among the dozens of participating senior attending physicians.

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 to 12 weeks for the UDP to evaluate an application, and the waiting list for admission is 2 to 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.

On July 2, 2012, the NIH Common Fund announced that it will provide $145 million over seven years to expand the NIH Undiagnosed Diseases Program through a network of medical research centers around the country. The expanded program will continue the focus on the discovery and diagnosis of patients, while promoting the use of genomic data and engagement of basic researchers in identifying the underlying mechanisms of diseases. The program will also train clinicians in the use of contemporary genomic approaches.

NIH funding for the new centers is expected to begin in fiscal year 2014.

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

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Program Background

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Program Information

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Program News

Print, audio and video news coverage for the Undiagnosed Diseases Program.

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Program Contact

U.S. Callers Only

Phone: 866-444-8806

International Callers

Phone: 00-1-301-496-4000. Ask for the Undiagnosed Diseases Program Information Line.
(Long-distance phone charges will apply.)

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Last Reviewed: May 12, 2014