Saying `aah’ helps unlock a genetic secret - Loeys-Dietz
“[14-year-old] Kyle has a split uvula, one telltale sign of the genetic disease Braverman had learned about at a conference on Marfan’s syndrome, a related genetic disease.
Researchers from Baltimore described the new disease, Loeys-Dietz aortic aneurysm syndrome, just last year. The diagnosis has had immediate consequences for Kyle and dozens of other people with the syndrome. That’s unusual in the realm of genetics and medicine. Often it can take years or decades for a discovery in a genetics lab to translate into improved care for patients.”