Nautilus

Matchmaking Algorithms Are Unraveling the Causes of Rare Genetic Diseases

Jill Viles, an Iowa mother, was born with a rare type of muscular dystrophy. The symptoms weren’t really noticeable until preschool, when she began to fall while walking. She saw doctors, but they couldn’t diagnose her or supply a remedy. When she left for college, she was 5-foot-3 and weighed just 87 pounds.

How she would spend her time there turned into part of a remarkable story by David Epstein, published in ProPublica in January. Viles tore through her library’s medical literature and came up with a self-diagnosis—Emery-Dreifuss, a rare form of muscular dystrophy—and she was right. Then she came across photos of a female Canadian Olympic hurdler, Priscilla Lopes-Schliep, and she realized that, despite the hurdler’s muscular frame, she still displayed

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