Mechanisms determining Marfan syndrome severity (Old ID 27110)

Principal Investigator

Marfan syndrome (MFS), caused by defects in the protein fibrillin-1, has a wide spectrum of severity with symptoms affecting the heart, bones and eyes. The cause of this variation in severity is unclear. Severe, neonatal MFS and Beal's syndrome result from mutations in corresponding parts of the proteins fibrilin-1 and fibrillin-2. Using clues from these diseases, this project will use new cell engineering techniques to determine why some fibrillin mutations are more severe than others. The results are relevant not only to understanding MFS, but also to understanding how the tissues in our bodies are developed and maintained.

01 Jan 2021 - 31 Dec 2023

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