A popular program that brings patients with mysterious diseases to the National Institutes of Health (NIH) campus in Bethesda, Maryland, so experts can try to pin down the cause of their disorder is expanding to universities.
The 4-year-old NIH Undiagnosed Diseases Program (UDP) has evaluated about 500 patients who come to NIH's clinical center for clinical and genetic tests. About 10%, or 50 patients, have been fully diagnosed with a genetic disease and about 30% have a partial diagnosis, says UDP Director William Gahl of the National Human Genome Research Institute. Often they have "incredibly rare diseases" with only a few dozen cases in the world, Gahl says. UDP has found two diseases that are new to science—a neurological disorder and a condition that causes arteries to calcify. Another 15 to 20 cases may prove to be novel genetic disorders, Gahl says.
UDP now sees more than 150 patients a year and has a $3.5 million budget. The program, a media favorite, has received thousands of inquiries. A year ago, NIH temporarily stopped accepting applications to catch up with a backlog.