Thanks to AI, Computers Can Now See Your Health Problems

gettyimages-117452419Patient number two was born to first-time parents, late 20s, white. The pregnancy was normal and the birth uncomplicated. But after a few months, it became clear something was wrong. The child had ear infection after ear infection and trouble breathing at night. He was small for his age, and by his fifth birthday, still hadn’t spoken. He started having seizures. Brain MRIs, molecular analyses, basic genetic testing, scores of doctors; nothing turned up answers. With no further options, in 2015 his family decided to sequence their exomes—the portion of the genome that codes for proteins—to see if he had inherited a genetic disorder from his parents. A single variant showed up: ARID1B.

The mutation suggested he had a disease called Coffin-Siris syndrome. But Patient Number Two didn’t have that disease’s typical symptoms, like sparse scalp hair and incomplete pinky fingers. So, doctors, including Karen Gripp, who met with Two’s family to discuss the exome results, hadn’t really considered it. Gripp was doubly surprised when she uploaded a photo of Two’s face to Face2Gene. The app, developed by the same programmers who taught Facebook to find your face in your friend’s photos, conducted millions of tiny calculations in rapid succession—how much slant in the eye? How narrow is that eyelid fissure? How low are the ears? Quantified, computed, and ranked to suggest the most probable syndromes associated with the facial phenotype. There’s even a heat map overlay on the photo that shows which the features are the most indicative match.

By  | Wired

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About Peter Coffaro 1134 Articles

A growth-driven and strategic executive, Peter Coffaro commands more than 20 years of progressive management success within the medical device industry. As a District Sales Manager for Stryker Orthopaedics, Peter was responsible for managing and directing a regional sales force to achieve sales and profit goals within the Rocky Mountain region. Previously, he was the Director of Sales & Marketing for Amp Orthopedics. In this role, Peter was responsible for planning, developing, and leading all sales and marketing initiatives. Peter is a former orthopedic distributor in the Pacific Northwest. He has also worked with DePuy Orthopaedics as well as Zimmer, and held positions in sales, sales training, and sales management. Peter has an extensive background in organizational development, business development, sales management, negotiating and P&L management. Peter holds a B.S. degree in Biology from Northern Illinois University.

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