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

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.

Keywords:Aortic aneurysms, Aortapathy, Genetic modifiers, Marfan syndrome, Fibrilin-1

Disciplines:Medical genomics, Transcription and translation, Medical epigenomics, Epigenetics, Genetics