undiagnosed

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Calling All Gene Detectives: Solve Diagnosis Mysteries To Win Contest, Play Role In Film

 

What in the world is wrong with Dr. Katia Moritz?

When she was 43, Moritz felt like she had life all figured out. Always a high-energy extrovert, she would begin her workdays as a clinical psychologist treating severely ill patients at 7:15 a.m., and get home in time to be with her three young children after school.

There was no time for slacking in a life so full, so when she was scheduled for a minor diagnostic procedure that involved inserting a tube down her throat to look into her stomach, she figured she’d recover from the sedation and come right back to work that afternoon.

But afterward, she felt so sick she went to bed and slept for three days. “I felt like I was poisoned,” she recalls. “It felt like the worst flu ever. I had a low grade fever, my body hurt, everything hurt. After a few days, I improved, but I never felt well. And then it became an episodic illness — a few days later I’d get it again, and a few weeks later I’d get it again.”

Moritz, now 48, has never been the same. For the last five years, she has seen dozens of doctors, trekked to leading medical centers around the country in search of a diagnosis and cure, to no avail. Her fevers come and go, and other symptoms; sometimes it’s hard to swallow, even walk.

Dr. Katia Moritz shares a happy post-interview moment with 5-year-old Jeremy, who is also undiagnosed. (Courtesy "Undiagnosed")

Dr. Katia Moritz shares a happy post-interview moment with 5-year-old Jeremy, who is also undiagnosed. (Courtesy “Undiagnosed”)

If this were the television show “House,” or the popular New York Times column “Think Like A Doctor,” her story would have a neat ending, a solution to her mystery. But as Moritz has learned in her exhaustive travels, in real life, a great many people — millions of them, she estimates — are clearly very sick but never get the answer that could help them get well. Call them “the undiagnosed.”

Now, she’s working on a documentary on their plight (see the trailer above) and — in a lucky convergence — she’s combining forces with the bright minds at the cutting edge of genomic research to seek answers.

Five undiagnosed patients from the documentary are the focus of a new contest run by Boston Children’s Hospital, titled “CLARITY Undiagnosed.” Aiming to advance the field of genomic medicine — using a patient’s gene information in the clinic — it offers a $25,000 prize to the research team that best solves the patients’ diagnostic mysteries.

In an unusual twist for such an exercise in competitive crowd-sourcing, the teams may also appear in the documentary that Moritz is creating. Titled simply “Undiagnosed,” It is still filming and thus far chronicles the patients’ struggles but has no happy endings. (The medical detectives can also opt out if they’re camera-shy.)

“The probability that we’re going to find something in any of these individuals is about 50 percent.”

– Dr. Isaac Kohane

Up to 30 competing teams in the CLARITY contest will be given each patient’s full medical record — no small file, given the medical odysseys they have endured. The contestants will also be given extensive data on the patients’ genes.

Teams have until June 25 to apply, says Dr. Isaac Kohane, chair of Harvard Medical School’s Department of Biomedical Informatics, and they will then have two months to work. Results will be announced in November.

“I would say that, based on the performance from the Undiagnosed Disease Program at the National Institutes of Health, the probability that we’re going to find something in any of these individuals is about 50 percent,” Kohane says. Continue reading