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The Pyrenean ibex, an impressive mountain goat that lived in the central Pyrenees in Spain, went extinct in 2000. But a...
Tight budgets are forcing NASA to consider turning off one or more planetary science projects that have completed their...
Ebola is not a stranger to West Africa—an outbreak in the 1990s killed chimpanzees and sickened one researcher. But the...
In an as-yet-unpublished report, an international panel of geoscientists has concluded that a pair of deadly...
Tropical disease experts tried and failed before to eradicate yaws, a rare disfiguring disease of poor countries. Now,...
Since 2002, researchers have reported that agricultural communities in the hot and humid Pacific Coast of Central...
Balkan endemic kidney disease surfaced in the 1950s and for decades defied attempts to finger the cause. It occurred...
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NIH Program on Undiagnosed Diseases Overwhelmed With Cases
1 July 2011 12:13 pm
The National Institutes of Health's (NIH's) high-profile initiative to diagnose mystery illnesses is pausing to catch its breath.
The Undiagnosed Diseases Program was started in 2008 to help people desperate for diagnosis and to use the discovery of novel diseases to learn more about human biology. But as of today, the program will temporarily stop accepting new applications for cases to be studied because of an "overwhelming number of applications already received," according to the note posted on the program's Web site.
"We've been flooded for a while. This is a last-ditch effort to catch up," says the program's head William Gahl, a biochemical geneticist at the National Human Genome Research Institute. "We want to be able to devote more time to the conditions we've already seen."
The Undiagnosed Diseases Program has received some 5400 inquiries, and a full application, with the medical records of the ill person, were submitted on about 1900, according to Gahl. The program has so far accepted around 450 of those applicants, but has had time to only investigate about 350 cases so far—each person typically comes in for about a week of studies at the clinical center on NIH's Bethesda, Maryland, campus. Gahl says that applications already submitted will still be considered for such a full investigation. And he hopes the program, which published its first discovery of a new genetic disorder earlier this year, will resume accepting new case applications in a few months.