Skip to main content
NIH Clinical Center
  Home | Contact Us | Site Map | Search
About the Clinical Center
For Researchers and Physicians
Participate in Clinical Studies

Back to: Clinical Center Home Page > For Researchers and Physicians > Lectures > Astute Clinician
 
Astute Clinician Lectures

2009 Astute Clinician Topic: Marfan syndrome and related disorders: from molecules to medicines

Our goal is to understand the genetic factors that predispose to aortic aneurysm, a condition accounting for 1–2 percent of deaths in industrialized countries. We have shown that the growth factor molecule TGF-beta drives many of the manifestations of Marfan syndrome, including aortic aneurysm, developmental emphysema, myxomatous valve changes and skeletal myopathy. Most importantly, these findings can be attenuated or prevented in validated animal models through TGF-beta antagonism in vivo. The identical mechanism and therapeutic response is relevant to other more common presentations of these important disease phenotypes. These data are illustrative of the promise that disease gene identification and elucidation of pathogenesis for rare Mendelian disorders will lead to the development of novel therapeutic strategies with broad application.

Page last updated: December 23, 2008


National Institutes
of Health
  Department of Health
and Human Services
 
NIH Clinical Center National Institutes of Health