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The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that focuses on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland. It was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center.

Overview

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.

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
     

For information, view our Frequently Asked Questions.

  • Overview

    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.

    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
       

    For information, view our Frequently Asked Questions.

UDP Facts (2008-2014)

  • Inquiries: 9,300.
  • Applications: 3,100.
  • Acceptances: 750.
  • Patients seen or scheduled: 700.
  • Approximate annual patient visit rate: 130.
  • Approximate distribution of patients seen: 40 percent pediatric cases and 60 percent adult cases.
  • Percentage of cases resolved with a either a clinical, molecular or biochemical diagnosis: a range between 25 and 50
  • Number of cases closed with no diagnosis: approximately 25 percent.
  • Number of cases pending diagnosis with strong leads: approximately 60.
  • Range in time to reach a diagnosis: from one week to four years.
  • Types of DNA analyses conducted: million-SNP (single nucleotide polymorphism) array scans performed for approximately 1,600 individuals (patients and family members); whole-exome sequencing analyses performed for approximately 900 individuals.
  • The NIH Common Fund awarded $5.6 million for FY14 to the NIH Undiagnosed Diseases Program, a clinical site of the Undiagnosed Diseases Network.
  • UDP Facts (2008-2014)
    • Inquiries: 9,300.
    • Applications: 3,100.
    • Acceptances: 750.
    • Patients seen or scheduled: 700.
    • Approximate annual patient visit rate: 130.
    • Approximate distribution of patients seen: 40 percent pediatric cases and 60 percent adult cases.
    • Percentage of cases resolved with a either a clinical, molecular or biochemical diagnosis: a range between 25 and 50
    • Number of cases closed with no diagnosis: approximately 25 percent.
    • Number of cases pending diagnosis with strong leads: approximately 60.
    • Range in time to reach a diagnosis: from one week to four years.
    • Types of DNA analyses conducted: million-SNP (single nucleotide polymorphism) array scans performed for approximately 1,600 individuals (patients and family members); whole-exome sequencing analyses performed for approximately 900 individuals.
    • The NIH Common Fund awarded $5.6 million for FY14 to the NIH Undiagnosed Diseases Program, a clinical site of the Undiagnosed Diseases Network.

How It Works

Individuals whose conditions have eluded medical diagnoses may apply to become UDP participants and, if invited, are admitted to the NIH Clinical Center in Bethesda, Md. Each patient undergoes a week of diagnostic tests and expert consultations provided for free at one of the world's largest medical research institutes.

The patient is examined by a multidisciplinary medical team with a deep base of knowledge about rare and common diseases. The team, drawn from various NIH institutes and centers, studies a patient's clinical and laboratory results for diagnostic clues while the patient is in the Clinical Center and in the weeks and months following their visit. 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.

Ultimately, the UDP offers patients the hope of a diagnosis and the possibility of therapeutic strategies. 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.

In return, patients provide UDP researchers the opportunity to gain new insights about genetic and biochemical mechanisms of disease and insights into normal cell biology, biochemistry and physiology. So far, UDP researchers have encountered patients with uncommon presentations of known disorders, multi-systemic complex disorders and new disorders that have never been diagnosed.

UDP clinical researchers are using advances in DNA sequencing to detect defects in genes that point to known disorders. These tools offer the potential for discoveries about the role of molecular and biochemical events that can cause disease and, eventually, the development of diagnostic and therapeutic approaches for rare and common diseases.

The caseload of the UDP is steadily growing, with more than 100 pediatric and adult patients added each year. The volume of applications from patients across the country, and abroad, has exceeded expectations, reflecting that the UDP fills an unmet need for undiagnosed patients.

  • How It Works

    Individuals whose conditions have eluded medical diagnoses may apply to become UDP participants and, if invited, are admitted to the NIH Clinical Center in Bethesda, Md. Each patient undergoes a week of diagnostic tests and expert consultations provided for free at one of the world's largest medical research institutes.

    The patient is examined by a multidisciplinary medical team with a deep base of knowledge about rare and common diseases. The team, drawn from various NIH institutes and centers, studies a patient's clinical and laboratory results for diagnostic clues while the patient is in the Clinical Center and in the weeks and months following their visit. 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.

    Ultimately, the UDP offers patients the hope of a diagnosis and the possibility of therapeutic strategies. 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.

    In return, patients provide UDP researchers the opportunity to gain new insights about genetic and biochemical mechanisms of disease and insights into normal cell biology, biochemistry and physiology. So far, UDP researchers have encountered patients with uncommon presentations of known disorders, multi-systemic complex disorders and new disorders that have never been diagnosed.

    UDP clinical researchers are using advances in DNA sequencing to detect defects in genes that point to known disorders. These tools offer the potential for discoveries about the role of molecular and biochemical events that can cause disease and, eventually, the development of diagnostic and therapeutic approaches for rare and common diseases.

    The caseload of the UDP is steadily growing, with more than 100 pediatric and adult patients added each year. The volume of applications from patients across the country, and abroad, has exceeded expectations, reflecting that the UDP fills an unmet need for undiagnosed patients.

Contact Information

Apply or learn more about being a UDP participant.

E-mail: UDN@hms.harvard.edu

Phone: 1-844-RING-UDN (1-844-746-4836)

News

2020

May 11, 2020: Bill Gahl receives HHS award

2019

September 19, 2019: Undiagnosed disease program finds novel genetic variant
UAB News

2018

September 24, 2018: The NIH Undiagnosed Diseases Network adds five new sites

2017

March 15, 2017: NHGRI's Cynthia Tifft receives 2017 NORD Rare Impact award
National Organization for Rare Disorders

March 8, 2017: Reddit "Ask Me Anything" Recap: The Undiagnosed Diseases Network

2014

July 21, 2014: One of a Kind: What would you do if your child has a condition new to science?
The New Yorker

July 2, 2014: Rare Diseases Targeted in New Research Program
HealthDay

July 1, 2014: NIH expands program to crack medical mysteries
Science

July 1, 2014: Medical Mysteries: New Network Will Help Rare Disease Detectives
NBC News

July 1, 2014: NIH Creates Network to Tackle Mysterious Diseases
Associated Press

July 1, 2014: U.S. agency taps medical centers to investigate rare diseases
Reuters

July 1, 2014: NIH Pumps $43M into Undiagnosed Diseases Network to Target Rare Disorders with Genomic Medicine
GenomeWeb

2013

November 9, 2013: Young brothers battling rare genetic disease in Belle Vernon
WTAE-TV, Pittsburgh, Pa.

March 11, 2013: Cutting-Edge DNA Sequencing Used to Diagnose Unknown Disease
Medscape

March 10, 2013: Noblesville family afflicted by mystery illness will turn to medical sleuths for answers
Indianapolis Star?

2012

May 20, 2012: Hard cases: Investigating rare & tough diseases
CBS News, 60 Minutes

May 7, 2012: Disease Detectives: Clinic of Last Resort
WFTV-TV Orlando, FL

March 8, 2012: Mysterious brain lesions send Pasco County man to National Institutes of Health for answers
Tampa Bay Times

February 29, 2012: Little girl now living without symptoms of rare disease
WFMZ-TV Allentown, PA

2011

November 2011: He's No Gregory House - Which is a Good Thing
Scientific American

October 26, 2011: For Those With Mystery Illnesses, a 'Clinic of Last Resort'
HealthDay

September 19, 2011: Sammies winner: The medical detective
Federal News Radio

August 17, 2011: William A. Gahl, NIH medical sleuth, tackles mysterious maladies
The Washington Post

July/August 2011: What to do when your doctor doesn't know
AARP The Magazine

June 4, 2011: Medical detective to visit Oklahoma
The Oklahoman

Spring 2011: The NIH Undiagnosed Diseases Program
NIH Medline Plus

March 10, 2011: The hunt for the mystery genes [bmj.com]
British Medical Journal

Feb. 2, 2011: NIH researchers identify genetic cause of new vascular disease
NIH/NHGRI News Release

Feb. 2, 2011: The medical detectives: Undiagnosed Diseases Program
NBC4 Washington

2010

Jan. 13, 2010: Today's Medical Mysteries: Doctors puzzle over woman's mystery ailment
NBC Today Show

Jan. 23, 2010: The Art of Diagnosis
PBS Second Opinion

Feb. 28, 2010: Disease Detectives
A Discovery Health, three-part promotion of the one-hour special.

Sept., 21, 2010: Elite medical unit is last hope for patients with mystery illnesses
CNN Anderson Cooper 360

Sept. 22, 2010: Doctors baffled by girl's condition
CNN Anderson Cooper 360

Sept. 24, 2010: NIH's mystery diseases ward
CNN Anderson Cooper 360

Nov. 8, 2010: A Place Where Hope Lives (Part One)
CBS WUSA9News

Nov. 8, 2010 : "A Place Where Hope Lives" (Part One, Alternate Edit)
CBS WUSA9News

Dec. 5, 2010: Power Player of the Week: Dr. William Gahl
FoxNews National

Dec. 13, 2010: Local Team Diagnoses Real-Life Medical Mysteries
Fox5News Washington

2009

May 28, 2009: Mystery Diseases
CNN International Vital Signs with Dr. Sanjay Gupta

2008

May 19, 2008: NIH Launches Undiagnosed Diseases Program
NIH/NHGRI News Release

August 12, 2008: A Place for Hope: A Young Woman Finds Answers at NIH Clinical Center
NHGRI News Feature?

YouTube

The Art of Diagnosis

NIH Undiagnosed Diseases Program Patient Advocacy Group Telebriefing

Patient Advocacy Group Telebriefing Transcript

Press Conference for the NIH Undiagnosed Diseases Program

NIH Undiagnosed Disease Program Press Conference Transcript

Last updated: August 26, 2020