When you visit a doctor, the hope is that they’ll run a few tests and you’ll leave with a diagnosis. For some patients, though, it doesn’t work out that way. This could be for any number of reasons, but a big one is this: They have diseases that are so uncommon they might never have been seen before.
If you have a rare, undiagnosed disease, there hasn’t historically been much medicine could do for you. Now an initiative called the “UDN Gateway” based out of Harvard Medical School is beginning to change that. It opened on Sept. 16, is part of a larger initiative called the Undiagnosed Diseases Network, and promises to use big data and information sharing to identify diseases that have previously been understood only as collections of mysterious symptoms.
“The whole idea here is to enable to anyone with an undiagnosed disease to apply, be evaluated, and get referred with all relevant medical data,” says Isaac Kohane, one of three Harvard researchers leading the UDN Coordinating Center based at Harvard Medical School.
Rare diseases affect an estimated 2-4 percent of the population. Each disease itself afflicts few people, but there are a great many of them, what Kohane calls “a long tail of rare diseases.” These diseases often have a genetic basis, either as uncommon recessive conditions or as the result of “de novo” genetic mutations not present in either parent. They can take varied and often debilitating form.
They also yield a common, frustrating clinical experience for sufferers, who bounce from one medical specialist to another without getting any answers. “Our fragmented health care system is traditionally very poor at data-sharing,” explains Euan Ashley, professor at the Stanford University School of Medicine and co-chair of the Undiagnosed Diseases Steering Committee, in an email. “We are incredibly excited to have a custom-made system tailored to the needs of these most complicated of patients.”