May 18, 2017 – Genes and Marfan’s

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Anchor lead: Genes may point the way to effective treatment for Marfan’s syndrome, Elizabeth Tracey reports

Marfan syndrome is characterized by defects in the connective tissue in the body, with some people developing life-threatening balloon-like lesions in the body’s largest blood vessel, the aorta, known as aneurysms. Hal Dietz, a Marfan’s expert at Johns Hopkins, says a new approach to how to ask research questions relative to the disorder has yielded fruit.

Dietz: The basic question we’re asking is how does nature protect some, but not all people with Marfan’s syndrome from aortic enlargement and aortic tear? In families with Marfan syndrome we’ve observed rare families where half the people with the Marfan mutation have severe aneurysm and the other half are protected. We decided to use genetic methods to identify the gene responsible for the protection.   :31

Dietz and colleagues have pursued this line of inquiry and found new ways to potentially manage Marfan syndrome and avoid dire outcomes such as rupture of the aorta. At Johns Hopkins, I’m Elizabeth Tracey.