Vanderbilt University Medical Center has been chosen to join the national Undiagnosed Diseases Network, a four-year $43 million initiative from the National Institutes of Health.
VUMC will receive an initial $7.2 million grant from NIH to participate. The local clinical site will emphasize heritable lung diseases, heart problems and metabolic and other genetic issues.
Undiagnosed diseases are conditions that physicians cannot diagnose, generally because they are rare or unknown. The six new UDN locations will join the original UDN site in Bethesda, Maryland, and contribute medical expertise and scientific investigation in such cases.
"The NIH's goal in this is to discover new diseases," Dr. John A. Phillips III, VUMC pediatrics professor and director of the Division of Medical Genetics and Genomic Medicine, said in a release. "A lot of these people haven't been diagnosed, not because they don't have something, but because nobody has seen what they have before."
Phillips (pictured) said the new sites would improve access for patients, who previously were required to travel to Bethesda.
"It's time to set up a network of clinical sites that will serve that same role, but will be more geographically dispersed," he said.
The other sites include Baylor College of Medicine, Duke University, Harvard Teaching Hospitals, Stanford University and the University of California at Los Angeles.
Gene sequencing will play a major role in diagnosing the conditions, said Dr. Eric Green, director of the National Human Genome Research Institute and co-chair of the UDN.
"Newly developed methods for genome sequencing now provide us amazingly powerful approaches for deciphering the causes of rare undiagnosed conditions," he said.
Each new site is expected to admit about 50 new patients per year by the summer of 2017.
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