BIRMINGHAM, Alabama -- Unsolved mysteries in the disease world will be the focus of a new program at the University of Alabama at Birmingham, the university announced this week.
The Undiagnosed Diseases Program will be led by Dr. Bruce Korf, professor and chair of the UAB Department of Genetics, and it will seek to make a diagnosis on cases previously undiagnosed despite extensive efforts.
"Undiagnosed diseases present a critical unmet need, with patients often cycling through the medical system with no satisfactory treatment plan," Korf said in a university release. "In some ways, we are a court of last resort for patients with an undiagnosed disease. We have resources and expertise that can be brought to bear in the search for answers."
The program, modeled on a similar program at the National Institutes of Health, will also include on its team Dr. Maria Descartes, a professor of genetics, and Dr. Gustavo Heudebert, professor of internal medicine, according to the release.
Doctors in such subspecialties as radiology, rheumatology and neurology, will serve as consultants.
Korf served as chair of the advisory board for the NIH initiative.
The NIH program reports that more than half of the patients seen there had undiagnosed neurological problems.According to the release, the NIH Office of Rare Diseases Research says there are about 500 diseases common enough to be in any physician's repertoire for diagnosis, while another 6,500 are known but are extremely rare.
Patients must be referred by their primary care doctor or a doctor providing ongoing care of the undiagnosed condition.
The program will be kept small -- about 40 to 50 cases per year -- and patients are not guaranteed to receive a diagnosis.