The Undiagnosed Diseases Program at the National Institutes of Health (NIH) is a project that is designed to advance the field of knowledge around rare and common diseases, as well as provide answers to those with undiagnosed conditions.
The NIH defines an undiagnosed condition as “any medical condition that eludes diagnosis by a referring physician” and a rare disease as a disease with “a prevalence of fewer than 200,000 affected individuals in the United States.”
Patients with undiagnosed conditions will have their DNA evaluated using knowledge from across departments at the NIH Clinical Center. Dozens of physicians in fields ranging from neurology to pediatrics to genetics will consult on each case. While diagnosis is not guaranteed, this information will help identify previously unrecognized diseases, suggest new ways to treat more common conditions, and create options for continued research.
In order to be considered for admittance into the Undiagnosed Diseases Program, a referral by a doctor is necessary. The physicial must provide a summary letter with a description of the condition, lists of treatments and medications that have been used and their effects, copies and results of tests, and any other documentation, including photos, videos, and family history. Individuals must be at least six months old, have a condition that remains undiagnosed, and able to travel.
Fifty to 100 cases will be asked to join the program after an application review by a medical team. It can typically take up to twelve weeks to receive a review, with a wait list up to six months for admission.
Information from the evaluation will be sent to your family and physician for long-term care.
Call the Clinical Centers Patient Recruitment Call Center at (866) 444-8806 to discover eligibility and find out what information must be submitted for review.
More information can be found on the Undiagnosed Diseases Program website.