NIH, six teaching hospitals create a 'mystery disease' network

Universities will accept patients with undiagnosed illnesses on NIH's waiting list

NIH last week announced that it is expanding its "mystery disease" program by creating the Undiagnosed Diseases Network—a four-year, $43 million initiative to identify "mystery diseases," give names to patients' puzzling symptoms, and find treatments for the illnesses.

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The initiative will expand a pilot program that was developed in 2008. Through the program, researchers have evaluated hundreds of cold-case patients. More than 3,000 patients have applied to the pilot program, but NIH has only been able to enroll 600 cases and "solve" about 25%.

Under the expansion, the NIH will continue evaluating about 130 to 150 patients a year and rely on six universities to add additional patients. Those universities are:

  • Baylor College of Medicine;
  • Duke University;
  • Harvard University's teaching hospitals;
  • Stanford University;
  • University of California-Los Angeles; and
  • Vanderbilt University.

The universities will gradually accept patients off the program's waiting list. By the summer of 2017, each university is expected to admit about 50 patients a year. No patients will be turned away because of a lack of health care coverage, NIH says.

The network will "focus on the rarest of disorders, often those affecting fewer than 50 people in the entire world," says Eric Green, director of NIH's National Human Genome Research Institute.

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For example, Louise Benge and her siblings suffer from unexplained debilitating pain in their hands and legs. After Benge was enrolled in the pilot program, researchers discovered that the siblings share a rare genetic defect that allows calcium to build up in the arteries of those limbs. Researchers in the program are now working on creating a medicine to treat the disorder.

"They have been really good about helping us and trying their best to figure out something for us to be able to get our life back without having all this pain," Benge told reporters after NIH's recent announcement (AP/TIME, 7/1).

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