NIH Undiagnosed Diseases Program (UDP)

Apply to UDP Frequently Asked Questions

The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN). The UDP was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center initially in 2008. The UDN was funded by the NIH Common Fund from 2013-2022.

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Overview

Longstanding medical conditions that elude diagnosis are considered undiagnosed and are of interest to this clinical research program. Thirty to thirty-five percent of applicants, who are referred by a clinician, are invited to participate in the study. In general, it takes several months to collect all the necessary medical records to start a case review, 8 to 12 weeks for the UDP to evaluate an application, and 2 to 6 months to be admitted for evaluation after acceptance in the UDP.

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 (2008-2024)

Inquiries: >9,300
Applications: >6000
Acceptances: >1600
Annual patient visit rate: 80-100
Approximate distribution of patients seen: 40 percent pediatric, 60 percent adult cases
New diseases discovered: >30
Percentage of cases resolved with a either a clinical, molecular or biochemical diagnosis: 25-50%
Range in time to reach a diagnosis: from one week to 10+ years.
Types of genomic sequencing performed: Family genome sequencing, SNP-array testing, methylation testing, RNA-sequencing, and other emerging technologies as appropriate

How it Works

Individuals whose conditions have eluded medical diagnoses may apply to the UDP. If, after the application is reviewed, the patient is accepted, they may be admitted to the NIH Clinical Center in Bethesda, MD for 2-5 days. Each patient undergoes a targeted clinical evaluation that may include remote DNA analysis, telehealth visits, and inpatient or outpatient visits at the NIH Clinical Center. An onsite evaluation will include diagnostic tests and expert consultations.

The patient is typically examined by a multidisciplinary medical team drawn from various NIH institutes and centers. Our team 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. Various medical specialties, including endocrinology, immunology, oncology, dermatology, dentistry, neurology, cardiology and genetics, from other NIH research centers and institutes contribute the expertise needed to conduct the evaluation.

Ultimately, the UDP offers patients hope for a diagnosis and the possibility of therapeutic interventions. UDP participants may receive consultation regarding their treatment when they arrive for an 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 referring clinician.

In return, patients provide UDP researchers the opportunity to gain new insights about genetic and biochemical mechanisms of disease, normal cell biology, biochemistry, and physiology. Patient diagnoses include uncommon presentations of known disorders, multi-systemic complex disorders, and new disorders that have never been identified.

The UDP uses multiple genomic sequencing technologies to identify rare and new genetic causes of disease. These technologies further our understanding of the role of molecular and biochemical events that cause disease. It is our hope that they also lead to the development of diagnostic and therapeutic approaches for rare and common diseases.

The caseload of the UDP is steadily growing, with about 100 pediatric and adult patients added each year.