May 19, 2017 – Genetic Promise


Anchor lead: Asking why some people with Marfan syndrome don’t have its worst consequences has led to new ways to intervene, Elizabeth Tracey reports

Even when someone has the genetic make-up to develop Marfan syndrome, a connective tissue disorder that can lead to rupture of the aorta and death, there are people who don’t develop such a consequence. Hal Dietz, a Marfan expert at Johns Hopkins, and colleagues, studied those people to find out what was protecting them.

Dietz: Quite remarkably, using five truly exceptional families, showing this dramatic degree of variation, we were able to show that a single region of a specific chromosome was passing in the family with protection which led us to a specific gene, and now to a specific drug target. We believe that we can leverage nature’s success at protecting people with Marfan syndrome, by using a drug that mimics the effect of the modifier gene.  :30

Dietz says approaching the issue from this perspective could have broad application for many disorders and diseases with a genetic basis. At Johns Hopkins, I’m Elizabeth Tracey.