Overstretched medical mystery program takes a breather

By Elie Dolgin

A major initiative aimed at tracking down the causes of mysterious illnesses seems to be a victim of its own success. Less than five months after the US National Institutes of Health’s Undiagnosed Diseases Program published its first clinical victory, program organizers announced a temporary moratorium on new applications, effective 1 July, to give the agency time to clear its backlog of petitions. “We’re inundated,” says the program’s director William Gahl, clinical head of the country’s National Human Genome Research Institute in Bethesda, Maryland.

The three-year-old, $3.5-million-a-year program has so far received more than 5,000 inquiries and about 1,900 full submissions, complete with medical records, images and, often, biopsied tissue. Of those, the program has accepted close to 500 applicants but only had time to investigate around 350 cases. The pause is an effort to catch up.

“We always have to set priorities,” says Gahl, “and right now we feel we should invest in the really good cases we’ve already seen.” The vetting process is labor intensive: the staff rejects as many as eight out of every ten applications owing to a lack of clinical data upon which to launch a full study. Gahl expects to start accepting new requests again in the fall.

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