The Canadian Press - ONLINE EDITION

NIH funds network of 6 universities to give patients with mysterious diseases a place to turn

  • Print

WASHINGTON - The government is expanding its "mystery disease" program, funding a network at six universities around the country to help diagnose patients with diseases so rare they've been told they're undiagnosable.

The National Institutes of Health has evaluated hundreds of these cold-case patients in its campus research hospital as part of a pilot program since 2008. Demand is so great, there's a waiting list.

So on Tuesday, the agency announced the NIH Undiagnosed Diseases Network, a four-year, $43 million initiative to bring more doctor-detectives on board in the quest to at least put a name to more patients' puzzling symptoms, and eventually find treatments.

The centres include: Baylor College of Medicine in Houston, Duke University, Stanford University, University of California, Los Angeles, Vanderbilt University and the Harvard University teaching hospitals Brigham and Women's, Massachusetts General and Boston Children's.

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

It's a field that can be "bleak and frustrating" for patients and doctors alike, said NIH program director Dr. William Gahl.

More than 3,000 patients have applied to the pilot program, which so far has enrolled about 600, NIH said. Gahl put the "solve rate" at about 25 per cent. Scientists say newer, more powerful genetic technologies give hope for unraveling the cause of more of these mystery diseases.

Louise Benge of Brodhead, Kentucky, and her siblings suffer debilitating pain in their hands and legs. After she enrolled in the pilot program, researchers discovered they inherited a rare genetic defect that makes calcium build up just in the arteries that feed those limbs, making walking and other movements difficult. Now researchers are testing a medication.

"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 Tuesday.

How the network will operate: The NIH will continue evaluating about 130 to 150 patients a year. The universities will gradually add additional ones until, by the summer of 2017, each should be admitting about 50 patients a year.

Participating patients spend a week in the designated centre for head-to-toe examinations and testing. NIH said no patient would be turned away from the program because of lack of insurance although each centre would decide how to handle coverage.

___

Online: http://rarediseases.info.nih.gov/undiagnosed

Fact Check

Fact Check

Have you found an error, or know of something we’ve missed in one of our stories?
Please use the form below and let us know.

* Required
  • Please post the headline of the story or the title of the video with the error.

  • Please post exactly what was wrong with the story.

  • Please indicate your source for the correct information.

  • Yes

    No

  • This will only be used to contact you if we have a question about your submission, it will not be used to identify you or be published.

  • Cancel

Having problems with the form?

Contact Us Directly
  • Print

You can comment on most stories on winnipegfreepress.com. You can also agree or disagree with other comments. All you need to do is be a Winnipeg Free Press print or e-edition subscriber to join the conversation and give your feedback.

You can comment on most stories on winnipegfreepress.com. You can also agree or disagree with other comments. All you need to do is be a Winnipeg Free Press print or e-edition subscriber to join the conversation and give your feedback.

Have Your Say

New to commenting? Check out our Frequently Asked Questions.

Have Your Say

Comments are open to Winnipeg Free Press print or e-edition subscribers only. why?

Have Your Say

Comments are open to Winnipeg Free Press Subscribers only. why?

The Winnipeg Free Press does not necessarily endorse any of the views posted. By submitting your comment, you agree to our Terms and Conditions. These terms were revised effective April 16, 2010.

letters

Make text: Larger | Smaller

LATEST VIDEO

Public finally sees inside the Museum for Human Rights

View more like this

Photo Store Gallery

  • MIKE.DEAL@FREEPRESS.MB.CA 100615 - Tuesday, June 15th, 2010 The Mane Attraction - Lions are back at the Assiniboine Park Zoo. Xerxes a 3-year-old male African Lion rests in the shade of a tree in his new enclosure at the old Giant Panda building.  MIKE DEAL / WINNIPEG FREE PRESS
  • A red squirrel peaks out of the shade in a tree in East Fort Garry, Sunday, September 9, 2012. (TREVOR HAGAN/WINNIPEG FREE PRESS)

View More Gallery Photos

Poll

Do you support Canada's involvement in the fight against Islamic State?

View Results

View Related Story

Ads by Google