People News

NIH commits $43 million toward cracking the mystery of undiagnosed diseases

2.4 from 9 votes
Thursday, July 03, 2014

Six years after the National Institutes of Health launched an investigation into rare, undiagnosed diseases, the government is putting  $43 million more into six clinical sites.

Each year since 2008, NIH's undiagnosed diseases program has been investigating mysterious illnesses afflicting about 130 people around the country. The new program could more than triple that total.

Such rare diseases, while individually rare, collectively afflict some 30 million Americans, almost 1 in 10. The effort to solve some of these medical mysteries will use the latest technology allowing doctors to read the genetic scripts of their patients.

Using these techniques in 2009, a team at the Medical College of Wisconsin and Children's Hospital of Wisconsin pinned down the genetic basis for a new disease afflicting a young Monona boy named Nic Volker. Volker was subsequently treated with an umbilical cord blood transplant and appears to have recovered well from his intestinal disease. He will turn 10 years old in October.

Tthe NIH undiagnosed diseases program has uncovered a diagnosis in between 25% and 40% of the cases it examines at its Bethesda, Md., headquarters. That diagnosis rate is comparable to what researchers at Children's and the Medical College of Wisconsin have achieved in their own program investigating the most baffling medical cases.

William A. Gahl, who heads the undiagnosed diseases program at NIH, stressed that in some 25% of cases even the most advanced genetic technology is not enough to reach a diagnosis. Many of those patients die.

"You can see this is difficult work, in which we sometimes fail," Gahl said. 

The new NIH program will establish regional sites across the country where patients with the most baffling illnesses can go for help. 

NIH selected the following clinical sites to receive $7.2 million each  to perform the same kinds of genetic testing and analysis done by Nic Volker's team in Wisconsin:

♦ Baylor College of Medicine in Houston.

♦ Boston Children's Hospital, Brigham and Women's Hospital and Massachusetts General Hospital in Boston.

♦ Duke University in Durham, N.C.

♦ Stanford University in California.

♦ University of California, Los Angeles.

♦ Vanderbilt University Medical Center in  Nashville, Tenn.

Each center is expected to provide expert analysis of some 50 mysterious cases a year.   

Author: Mark Johnson
Source: Journal Sentinel
2.4 from 9 votes
Free Newsletter