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There are several goals for Marfan syndrome research. For example, some researchers are attempting to find ways to treat the complications that can occur as a result of Marfan syndrome. Other research teams are trying to find out why people with Marfan syndrome are affected differently and how the genetic mutation changes the development of connective tissues.

An Overview of Marfan Syndrome Research

Scientists are approaching Marfan syndrome research from a variety of perspectives.
 

Marfan Syndrome Research: How Does the Defect Occur?

Research scientists are attempting to find out what happens once the genetic defect or mutation occurs in the fibrillin-1 (FBN1) gene. They want to know:
 
  • How the mutation changes the development of connective tissues
  • How the mutation affects bodily functions
  • Why people with Marfan syndrome are affected differently.
 
Marfan syndrome research teams are searching for the answers to these questions by:
 
  • Studying the mutated genes
  • Studying large family groups affected by the disease
  • Studying newly developed mouse models that carry mutations in the fibrillin-1 gene
  • Conducting animal studies that are preliminary to gene therapy.
 

Marfan Syndrome Research: Other Considerations

Other Marfan syndrome research scientists are focusing on ways to treat the complications that arise in people with Marfan syndrome. Studies are being conducted to evaluate certain medications that prevent or reduce problems with the aorta. Researchers are also working to develop new surgical procedures to help improve the cardiac health of people with Marfan syndrome.
Written by/reviewed by:
Last reviewed by: Arthur Schoenstadt, MD
Last updated/reviewed:
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