Vanderbilt Will Work With The NIH To Investigate Rare Genetic Diseases

Vanderbilt University Medical Center is one of six academic hospitals to participate in the program, along with Baylor, Harvard, Duke, Stanford and University of California Los Angeles. Credit: mirsasha via Flickr

Vanderbilt University Medical Center announced this week that it’s part of a nationwide network of hospitals working to identify new diseases.

As many as one in 10 Americans have a rare disorder, according to the National Institutes of Health, and most of them are genetic — which could be something that runs in the family or comes from a mutation in DNA.

Dr. John Phillips, a pediatrician at Vanderbilt, says it’s often hard to identify genetic diseases. A doctor might not be able to recognize an unusual disorder, or the patient might express symptoms in an unusual way. Sometimes, the disease is so rare, it hasn’t ever been identified at all.

“There are some things that haven’t seen yet or discovered yet,” Phillips says. “Even great doctors with all of the attention in the world can’t diagnose something that’s never been discovered.”

If doctors do discover which gene is responsible, Phillips says, they can often figure out how to treat the disease, even if it’s never been reported before.

Vanderbilt will work with the NIH and five other academic hospitals, including Harvard and Duke, to enroll patients and share their results. The NIH’s current undiagnosed disease program requires patients to travel to Bethesda, Maryland from around the country. The new network will make testing accessible to more people, which will allow more people to enroll.

The network will focus on the “rarest of disorders, those affecting fewer than 50 people in the entire world,” Dr. Eric Green, director of NIH’s National Human Genome Research Institute, told the AP. According to the NIH, the 6-year-old program has a diagnosis rate of 20 to 25 percent and has discovered two new diseases so far.