Code
01CD04124
Duration
01 November 2024 → 31 October 2025
Funding
Regional and community funding: Special Research Fund
Promotor
Fellow
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.