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Officials last week revealed that the U.S. contribution to ITER could cost $3.9 billion by 2034—roughly four times the...
An experimental hepatitis B drug that looked safe in animal trials tragically killed five of 15 patients in 1993. Now,...
Using the two high-quality genomes that exist for Neandertals and Denisovans, researchers find clues to gene activity...
A new report from the Intergovernmental Panel on Climate Change (IPCC) concludes that humanity has done little to slow...
Astronomers have discovered an Earth-sized planet in the habitable zone of a red dwarf—a star cooler than the sun—500...
Three years ago, Jennifer Francis of Rutgers University proposed that a warming Arctic was altering the behavior of the...
- 17 April 2014 12:48 pm , Vol. 344 , #6181
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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.