Project

Discovery of genetic modifiers of the phenotypical cardiovascular variability in Marfan syndrome to pave the road to individualized treatment protocols.

Code
01CD04124
Duration
01 November 2024 → 31 October 2025
Funding
Regional and community funding: Special Research Fund
Promotor
Research disciplines
  • Natural sciences
    • Epigenetics
    • Genetics
    • Transcription and translation
  • Medical and health sciences
    • Medical epigenomics
    • Medical genomics
Keywords
Genetic modifiers Fibrilin-1 Marfan syndrome Aortic aneurysms Aortapathy
 
Project description
Marfan syndrome(MFS) is a connective tissue disorder caused by FBN1-gene mutations. Mortality is determined by aortic root dissections/ruptures, however a poor correlation between mutation nature/location and the phenotype is seen. There is a wide intra- and interfamilial variability, from asymptomatic to sudden death at a young age. The goal of this project, MFS-aortopathy genetic modifier discovery, leads to innovative personalized treatments.