Thursday, May 27, 2010

NIH: 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 will 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 may participate in the program's clinical research.

Any 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 may be referred to this program, a very limited number will be invited to proceed in the study at the discretion of the program’s medical team.

For more information please call (866) 444-8806

Please do not send Undiagnosed Diseases Program-related email or submit medical records to the NIH Office of Rare Diseases. All communication should be handled through the Undiagnosed Diseases Program staff at the NIH Clinical Center.

Program Information

Frequently Asked Questions (FAQ)

Information for patients (PDF - 90 KB)

Information for health-care providers (PDF - 93 KB)

News

Press Release (PDF - 51KB)

Place for Hope

Audio recording media telebriefing (MP3 - 10,799 KB)

Audio recording patient advocacy teleconference (MP3 - 18,905 KB)

Transcript: Undiagnosed Diseases Program Media Tele-Briefing (PDF - 79 KB)

NY Times Magazine describes the experiences of a UDP patient

Patient Support

In Need of Diagnosis, Inc. (INoD)

Syndromes Without A Name- USA (SWAN-USA)

From http://rarediseases.info.nih.gov/Resources.aspx?PageID=31