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.
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