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Undiagnosed Diseases Program

(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.

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, 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 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. 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 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

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.  A list of additional announcements can be found on NHGRI’s UDN webpage.



Program Information

Frequently Asked Questions (FAQ)

Information for patients (PDF - 90 KB)

Information for health care providers (PDF - 93 KB)

News

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

Patient Support

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.

In Need of Diagnosis (INOD)
P.O .Box 536456
Orlando, FL 32853-6456
Toll-free: 888-894-9190
Telephone: 407-894-9190
Fax: 407-898-4234
E-mail: help@INOD.org
Web site: http://www.INOD.org

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.

Syndromes Without A Name (SWAN)
United States
Toll-free: 888-880-SWAN
Telephone: 269-692-2090
E-mail: swanusa@undiagnosed-usa.org
Web site: http://www.undiagnosed-usa.org

Table of Contents

Locate healthcare providers and researchers who have knowledge of your condition.

Navigate the process of trying to obtain a diagnosis.