Advancing Treatment for Connective Tissue Disorders

Genetic research and animal modeling help Hopkins researchers better understand Loeys-Dietz Syndrome

First described in 2005, Loeys-Dietz Syndrome is a connective tissue disorder that can cause a variety of problems for patients, including the overgrowth of bones, laxity of joints, and, in severe cases, tears in blood vessels that can lead to sudden death. But with philanthropic support from generous donors like the Kasper Foundation, Hopkins Professor Hal Dietz — one of the first to observe the Loeys-Dietz Syndrome — and his team are learning more about the disease through genetic studies and a new patient registry, seeking an “Achilles’ heel” in Loeys-Dietz’s molecular links.

“Our hope is to be able to prevent problems, rather than have to react to problems with surgery,” Dietz says in the following video produced by the McKusick-Nathans Institute of Genetic Medicine.