For years, Dr. John Phillips and his team have been analyzing patient DNA in hopes of solving medical mysteries.
"Before treatment comes diagnosis, so we need to be able to help people with telling what they have so it can lead to treatment," said Phillips, David T. Karzon Professor of Pediatrics at Vanderbilt.
Now, Vanderbilt doctors will join other researchers as part of the Undiagnosed Disease Network.
Dr. Phillips said the program first launched back in 2008. The goal was to put a name to a patient's puzzling symptoms and develop treatments. It became so popular that there's now a waiting list.
The expanded network will bring together some of the nation's best medical centers, including Vanderbilt, one of only seven hospitals in the country selected.
"So Vanderbilt has this collection of capabilities that I think were very appealing to the reviewers, making them believe that if a patient came to Vanderbilt, they'd get a good evaluation for a mysterious illness they might have," said Dr. John Newman, Elsa S. Hanigan Chair in Pulmonary Medicine at Vanderbilt.
A mysterious illness is a condition that doctors can't seem to diagnose. It can be someone with unusual symptoms of a more common disease or someone with a disease that's never been discovered.
The process of solving these cases is intense and involves extensive lab work and analysis.
When doctors are able to close the book on a mystery, that information will be shared with other centers to look for similar medical problems or new diseases.
"Vanderbilt has a lot of great physician-scientists who are interested in understanding what is wrong with patients. People are referred to Vanderbilt because their doctors don't understand what's wrong with the patient, so they come to Vanderbilt and get evaluated," Newman said.
The program started with one site in Maryland six years ago. To date, those doctors have seen 600 to 700 patients and have successfully diagnosed 25 to 40 of those cases.
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