Smilow Accomplishments

William S. Smilow Center Accomplishments

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• 1994    - use of genetic markers to stratify cardiovascular risk in families with Marfan syndrome

• 1995    - development of efficient methods to identify mutations causing Marfan syndrome
  
• 1995    - development of methods for preimplantation diagnosis of Marfan syndrome
  
• 1996    - identification of the cause of some cases of Shprintzen-Goldberg syndrome
  
• 1996    - development of diagnostic criteria for Marfan syndrome
  
• 1997    - development of the first animal model of Marfan syndrome
  
• 1997    - report of the largest surgical experience of children with Marfan syndrome
  
• 1998    - identification of the molecular basis for subdiagnostic variants of Marfan syndrome
• 1999    - delineation of events culminating in aortic aneurysm in mouse models of Marfan syndrome

• 2001    - identification of altered cellular performance in mouse models of Marfan syndrome
• 2002    - delineation of Marfan syndrome-specific growth parameters
• 2003    - first implication of altered TGFb signaling in Marfan syndrome and demonstration that TGFb antagonists can prevent developmental emphysema

• 2004    - development of new animal models of Marfan syndrome and refinement of disease  mechanism

• 2004    - implication of altered TGFb signaling in the pathogenesis of valve disease in Marfan syndrome

• 2005    - identification of Loeys-Dietz syndrome and its molecular basis
• 2006    - demonstration of TGFb’s central role in aortic aneurysm and the protective effects of losartan in mouse models of Marfan syndrome

• 2006    - delineation of the natural history of Loeys-Dietz syndrome
• 2007    - losartan improves muscle regeneration, architecture and function in Marfan 
  syndrome and Duchenne muscular dystrophy

• 2007    - report of the outstanding response of patients with Loeys-Dietz syndrome to prophylactic vascular surgery
• 2007    - delineation of the inheritance and natural history of bicommissural aortic valve with aneurysm
  
• 2007    - report of the launch of a multicenter clinical trial of losartan in Marfan syndrome
  
• 2008    - report of an initial experience treating children with Marfan syndrome with losartan

• 1994    - use of genetic markers to stratify cardiovascular risk in families with Marfan syndrome

• 1995    - development of efficient methods to identify mutations causing Marfan syndrome
• 1995    - development of methods for preimplantation diagnosis of Marfan syndrome
• 1996    - identification of the cause of some cases of Shprintzen-Goldberg syndrome
• 1996    - development of diagnostic criteria for Marfan syndrome
• 1997    - development of the first animal model of Marfan syndrome
• 1997    - report of the largest surgical experience of children with Marfan syndrome
• 1998    - identification of the molecular basis for subdiagnostic variants of Marfan syndrome
• 1999    - delineation of events culminating in aortic aneurysm in mouse models of Marfan syndrome

• 2001    - identification of altered cellular performance in mouse models of Marfan syndrome
• 2002    - delineation of Marfan syndrome-specific growth parameters
• 2003    - first implication of altered TGFb signaling in Marfan syndrome and demonstration that TGFb antagonists can prevent developmental emphysema

• 2004    - development of new animal models of Marfan syndrome and refinement of disease  mechanism

• 2004    - implication of altered TGFb signaling in the pathogenesis of valve disease in Marfan syndrome

• 2005    - identification of Loeys-Dietz syndrome and its molecular basis
• 2006    - demonstration of TGFb’s central role in aortic aneurysm and the protective effects of losartan in mouse models of Marfan syndrome

• 2006    - delineation of the natural history of Loeys-Dietz syndrome
• 2007    - losartan improves muscle regeneration, architecture and function in Marfan 
  syndrome and Duchenne muscular dystrophy

• 2007    - report of the outstanding response of patients with Loeys-Dietz syndrome to prophylactic vascular surgery
• 2007    - delineation of the inheritance and natural history of bicommissural aortic valve with aneurysm
  
• 2007    - report of the launch of a multicenter clinical trial of losartan in Marfan syndrome
  
• 2008    - report of an initial experience treating children with Marfan syndrome with losartan