$43M Quest: Solve Mystery of Rarest Diseases

NIH will pour millions into 6 research centers over 4 years

By Shelley Hazen,  Newser Staff

Posted Jul 2, 2014 10:27 AM CDT

(Newser) – They're baffling, mysterious, confounding: the rarest of rare diseases, ones that often plague no more than 50 people on the globe. The quest to diagnose them is getting a big boost from the National Institutes of Health, which yesterday announced the creation of a an "Undiagnosed Diseases Network." Essentially, NIH is handing a total of $43 million in grants to six centers: at Duke, Stanford, Baylor, Vanderbilt, Baylor, and Boston Children's Hospital/Brigham and Women's Hospital/Massachusetts General Hospital. The hope is that within three years, each center will see 50 patients annually—testing their genetic codes and comparing notes on the findings, NBC News reports. Patients will be directed to the various centers via a coordinating center at Harvard, which will also make sure that relevant data is shared across centers, reports the Boston Globe.

The NIH explains that the network builds on a 6-year-old program at the NIH Clinical Center in Bethesda, Md.; but that program has only been able to study about 20% of the 3,000 people who have applied to it, per the Globe. Their disorders are often caused by extremely rare genetic mutations, and genetic sequencing has unraveled some of the mystery. Researchers have already found the genomic foundation for 5,000 rare genetic disorders, but 3,000 more remain, the director of one of the NIH institutes explains. The Globe puts the current odds of finding the root of a rare disease at about 25%—a stat that could be boosted as the six centers use the most cutting-edge technology.

  (Shutterstock)
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