NIH to Expand Undiagnosed Diseases Program

Mystery revealed. The knee of a patient with a calcified leg artery.


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.

NIH could have expanded the intramural program, but it wanted to "let other people engage in this" and create centers that would be located closer to patients, Gahl says. NIH expects to fund five or six extramural centers at $145 million over 7 years. Researchers there will be trained in UDP's methods for patient screening, clinical studies, and genetic tests, which may include sequencing the patient's family's protein-coding DNA. Each center will see about 50 patients a year, which combined with the Bethesda patients will bring the total to 450.

The expansion comes from the NIH's Common Fund, a $557 million program for cross-cutting initiatives that turns over some money each year as projects wind down or move to NIH institutes. The other new Common Fund initiative launching in 2013 will focus on RNA molecules that cells secrete to communicate with each other. The Extracellular RNA Communication program will receive $130 million over 5 years.