This NIH Project Has Diagnosed Hundreds of People with Previously Undiagnosable Diseases

Imagine waking up one morning with a strange, painful redness in your hands and feet. You take aspirin to dull the pain, but after a while, it stops working. It's bad enough that you make an appointment with your doctor, who has no idea what's causing your condition. He refers you to an autoimmune specialist, who refers you to a neurologist, who tries treatment after treatment to no avail. Hundreds of people across the world are dealing with frustrating, nearly hopeless medical scenarios a lot like this one. Luckily, researchers at the Undiagnosed Diseases Network are trying to help.

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It's Not Lupus

The Undiagnosed Diseases Network, or UDN, is a research study funded by the National Institutes of Health Common Fund, a sort of "venture capital" arm of the NIH that deals with short-term, goal-driven projects. That certainly applies here: The UDN is a groundbreaking study that connects physicians and researchers from across the country in order to solve some of the most challenging medical mysteries. It's basically the medical drama House, except the doctors are all over the nation and they're a lot nicer.

The UDN has received nearly 3,000 participant applications since it began in 2014. For every application that's accepted — participants have to have a condition that's undiagnosed despite a thorough medical evaluation, and "at least one objective finding" — the network evaluates the condition at no charge to the patient. That involves a series of examinations by various medical specialists, and almost always includes genetic testing. That's because in many cases, physicians can use information in DNA and RNA to learn more about the genetic links to various symptoms, if not come up with a complete diagnosis for the patient.

"We do this Sherlock Holmes-like detective work-up by carefully observing, gathering information, and asking pointed questions, but we're also pairing that with the most advanced genomic technologies to try to solve their case," Euan Ashley, M.D., a professor of medicine at Stanford, said in a press release.

Best of all? It's working. In a new study co-authored by Ashley and led by Kimberly Splinter, the associate director of research operations for the UDN's coordinating center, researchers have crunched the numbers on UDN's success rate. More than 100 patients now have a diagnosis.

Light in the Darkness

The study began with a whopping 1,519 patients, about half male and half female. Most of them suffered from neurologic symptoms, and smaller minorities dealt with musculoskeletal, allergic, gastrointestinal, and rheumatologic conditions. Of those patients, roughly 600 were accepted into the study, and 382 went on to get a full evaluation. By the end of the study, an impressive 132 patients received a diagnosis for their previously undiagnosed condition — a diagnosis rate of 35 percent. Most of those were thanks to genetic sequencing.

Among the patients with a diagnosis, most had a rare form of a known disease. But 31 of the patients didn't — their diseases were completely unknown to medical science. One person, for example, had suffered for years from episodes where lactic acid would build up to dangerous levels in his body, known as "lactic acidosis." When doctors sequenced his genes, they found a single mutation in a gene involved in mitochondrial function. After announcing this discovery to the rest of the network, they found that other doctors also had patients who suffered from this condition, and got help proving that this genetic mutation did indeed cause the syndrome.

Of course, the biggest benefit to getting a diagnosis is the possibility of finally getting treatment. For 80 percent of these diagnoses, the network could give patients actionable information like changes to their therapy, future testing adjustments, and recommendations for family screening. And even those who didn't get a diagnosis have a silver lining since the research team is still working on their individual medical mysteries, and they might find an answer someday. If you or a loved one would like to apply to the project, you can do so right here.

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Learn about children suffering from rare disorders and the physicians working to save them in "Orphan: The Quest to Save Children with Rare Genetic Disorders" by Philip R. Reilly. We handpick reading recommendations we think you may like. If you choose to make a purchase, Curiosity will get a share of the sale.

Written by Ashley Hamer October 31, 2018

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