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 hadnt 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 exomesthe portion of the genome that codes for proteinsto 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 didnt have that diseases typical symptoms, like sparse scalp hair and incomplete pinky fingers. So, doctors, including Karen Gripp, who met with Twos family to discuss the exome results, hadnt really considered it. Gripp was doubly surprised when she uploaded a photo of Twos face to Face2Gene. The app, developed by the same programmers who taught Facebook to find your face in your friends photos, conducted millions of tiny calculations in rapid successionhow 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. Theres even a heat map overlay on the photo that shows which the features are the most indicative match.
In hindsight it was all clear to me, says Gripp, who is chief of the Division of Medical Genetics at A.I. duPont Hospital for Children in Delaware, and had been seeing the patient for years. But it hadnt been clear to anyone before. What had taken Patient Number Twos doctors 16 years to find took Face2Gene just a few minutes.