Patient 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.