Duke Scientists To Help Diagnose Mystery Diseases

Jul 9, 2014

Duke University Hospital
Credit Duke Medecine

Researchers at Duke University will become part of a national network focusing on undiagnosed diseases.

The National Institutes of Health have granted $7.2 million for geneticists at Duke to look at the rarest diseases in the world, affecting fewer than 50 patients each.

Doctor David Goldstein is one of the principle investigators for the project. He says a team at Duke has spent four years taking what used to be a purely clinical investigation and moving it into the world of genetics.

"So what we do is we sequence the patient's genome," said Goldstein. "We sequence the parents. And we look at all the variants we see in the patient and we see whether any of them are good candidates to explain the patient's condition."

Duke will be joining teams at Harvard, Stanford, Vanderbilt and others in implementing the new program. By 2017, Duke and the other Universities plan to see a total of about 300 patients a year.

"The first year we will be seeing 10 patients," said Shashi, "Because it takes a lot to get this network up and going... The second year we'll be seeing 25. And the third and fourth years we'll be seeing 50 patients per year, per site."

The NIH currently sees about 150 patients a year at its facility in Maryland. The national program estimates it solves about 25 percent of these cases.