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The Doctor for the Undiagnosed
A leader of the Undiagnosed Diseases Network on solving medical mysteries
It usually takes up to eight years for a person with a rare disorder to reach a diagnosis. And yet having one is often critical to unlock treatment options and insurance coverage.
Since 2008, the National Institutes of Health (NIH) has funded a relatively unknown network of physicians focused on providing diagnoses and treatment for people with mysterious disorders that have flummoxed their doctors. Sometimes referred to as “the clinic of last resort,” the Undiagnosed Diseases Network (UDN) includes 12 clinics across the nation where teams of medical experts use imagining, physical exams, and advanced genetic sequencing to crack some of the toughest medical cases. So far, doctors and scientists at the UDN have evaluated 1,029 people and diagnosed 283.
The leader of the network is Dr. William Gahl, the clinical director of the National Human Genome Research Institute at the NIH. He spoke to Medium about the challenges of diagnosing tough cases.
This interview has been edited and condensed for clarity.
Medium: Why is a diagnosis important?
William Gahl: There are many benefits to having a diagnosis. People think it might…
