Betting on Cilia

摘要

Patients with Bardet-Biedl syndrome have an odd combination of symptoms. The first signs appear at birth: They have extra fingers or toes, which are most often surgically removed. When patients are in their teens and early 20s, more ominous symptoms appear. Their kidneys fail, they start to lose their eyesight, and they become obese and develop diabetes. Some also suffer from mental retardation. For decades, the disease, which affects one in 100,000 people, was a stubborn puzzle for doctors who struggled to link the diverse maladies.