Texas scientists using gene sequencing were able to solve about a quarter of mystery diseases plaguing some children and adults.
The study is the first large-scale effort to use gene sequencing in ordinary medical care, not just lab research. Some of the cases they solved had stumped doctors for years, such as children with neurological problems, mental slowness or muscles too weak to let them stand.
Doctors at Baylor College of Medicine say they have decoded the genes of 1,700 patients so far and found mutations in 1 out of 4 cases. In several people, the diagnoses led to potentially lifesaving treatments. In other cases, the information helped parents decide whether to have more children.
The study was published online Wednesday by the New England Journal of Medicine.