As difficult as it is to have a rare disease, not having a diagnosis is even worse. We’ve blogged before about the fascinating work of the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH), whose goal is to provide answers to patients with mysterious conditions that have long eluded diagnosis and to advance medical knowledge about both rare and common diseases.
A clinic of last resort
A long-term medical issue that has eluded diagnosis by physicians is considered undiagnosed, and thousands of desperate patients have applied to the UDP. Of the applicants to the program, only a very small number are invited to proceed. A CBS news piece shares the moving stories of four people in the program. The UDP’s director, William Gahl, MD, PhD, notes that he reviews every application and talks about how difficult it is to decide who to accept.
Last year, the UDP stopped accepting patient applications in order to catch up with a backlog, but they are now evaluating new cases. The 4-year-old program has seen about 500 patients and has succeeded in making a full diagnosis of a genetic disease for about 10% of patients and a partial diagnosis for about 30%. According to this study, the Undiagnosed Diseases Program has enabled the discovery of several new diseases and disease mechanisms.
In July the NIH announced approximately $145 million in new funding over the next several years for the UDP. This money will allow the program to expand to five or six other sites where researchers will learn the UDP’s methods. These additional sites will allow more patients to be evaluated. Currently, about 150 patients are seen each year at the NIH in Bethesda, Maryland.
According to the NIH press release, “… UDP will test whether this type of cross-disciplinary approach to disease diagnosis is feasible to implement in academic medical centers around the country. It will promote the use of genomic data in disease diagnosis and will engage basic researchers to identify the underlying mechanisms so that therapies may be rapidly identified. The program will also train clinicians in the use of contemporary genomic approaches so that these methods can be used to fight other diseases.”
In the video below, Dr. Gahl gives a TEDx talk in which he reviews a few patient stories, as well as the challenges facing pharmaceutical companies, physicians and the FDA in relation to ultra rare diseases. Near the end of the video, Dr. Gahl says, “People in the rare disease community want to be protected, but they don’t want to be protected to death.”