Dr. Maximilian Muenke has a superpower: He can diagnose disease just by looking at a person’s face. Specifically, he can spot certain genetic disorders that make telltale impressions on facial features. “Once you’ve done it for a certain amount of years, you walk into a room and it’s like, oh, that child has Williams syndrome,” he said, referring to a genetic disorder that can affect a person’s cognitive abilities and heart.
And that’s an incredibly useful skill, even as genetic sequencing becomes more widespread. For one thing, it can be the factor that sends someone to get a genetic test in the first place. For another, people in many parts of the world don’t have access to genetic tests at all. That’s inspired years of effort to train a computer to do the same thing. Software that analyzes a patient’s face for signs of disease could help clinicians better diagnose and treat people with genetic syndromes. MORE