Scope of my research

My group aims to decipher the genetic causes of diseases and traits related to cardiovascular disease. I have investigated in the past the genetic basis of several obesity and type 2 diabetes related traits, especially fasting glucose an insulin. My recent focus is on the genetic study of Fibromuscular Dysplasia (FMD) and Mitral Valve Prolapse (MVP). 

 

My aim is to understand the aetiology of these diseases to improve their diagnosis and provide biological leads toward more precise treatments.

 

We apply complementary scientific strategies combining Genetic Epidemiology, Molecular Genetics, Cellular Biology: 

 

1) The investigation of the genetic basis of FMD and MVP using GWAS, exome and targeted sequencing in case control cohorts and families.

2) The study of the functional significance of the genetic susceptibility variants at confirmed loci and the regulation of their targeted genes. 

3)The exploration of the mechanistic link between susceptibility genes and the physiopathology of FMD and MVP (e.g engineered cell lines, and total expression in human arteries, valves).