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5 December 2013 11:26 am ,
Vol. 342 ,
An animal rights group known as the Nonhuman Rights Project filed lawsuits in three New York courts this week in an...
Researchers have been hot on the trail of the elusive Denisovans, a type of ancient human known only by their DNA and...
Thousands of scientists in the Russian Academy of Sciences (RAS) are about to lose their jobs as a result of the...
Dyslexia, a learning disability that hinders reading, hasn't been associated with deficits in vision, hearing, or...
Exotic, elusive, and dangerous, snakes have fascinated humankind for millennia. They can be hard to find, yet their...
Researchers have sequenced and analyzed the first two snake genomes, which represent two evolutionary extremes. The...
Snake venoms are remarkably complex mixtures that can stun or kill prey within minutes. But more and more researchers...
At age 30, Dutch biologist Freek Vonk has built up a respectable career as a snake scientist. But in his home country,...
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NIH to Expand Undiagnosed Diseases Program
3 July 2012 12:33 pm
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.