Matchmaking Algorithms Are Unraveling the Causes of Rare Genetic Diseases

Regan Penaluna at Nautilus: “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 some of the same physical characteristics—similarly prominent arm and leg veins, peculiarly missing fat, and the same separation between butt and hip muscles. Eventually, in a slow, roundabout way, Viles managed to contact Lopes-Schliep and confirm that they shared the same type of partial lipodystrophy, Dunnigan-type. By comparing their genomes, scientists could determine that both women had a mutation in the same gene, though they were mutated in different ways—explaining, perhaps, why Viles’ muscles degenerated and Lopes-Schliep’s didn’t.

Viles’ story illustrates the challenge of finding the genetic cause for rare diseases, which some define as affecting less than 5 in 10,000 people. Heidi Rehm, a professor of pathology at Harvard Medical School, has set out to speed up and streamline the matching process. Since last July, Rehm and a group of geneticists launched Matchmaker Exchange, a network of gene databases that helps solve the causes of rare disease by matching the disease symptoms and genotype between at least two people’s cases. The goal in the next 5 to 10 years, Rehm says, is to see if there is a common variant in a novel gene that’s never been implicated in a disease. It’s been likened to the online dating site of rare genetic diseases. .Nautilus caught up with Rehm to learn more about her work….(More)”