Objective Cardiovascular disease (CVD) is under-diagnosed and under-investigated specifically in women. Clinical presentation of CVD is often different in women and the aetiology of some diseases is potentially triggered by specific female sex environmental factors (e.g hormonal cycles and pregnancy) and could result in a distinct physiopathology from men. This may apply to fibromuscular dysplasia (FMD) and spontaneous coronary artery dissection (SCAD), two devastating arterial diseases that share clinical features, which are non-atherosclerotic stenosis of medium-size arteries (renal and/or cerebrovascular arteries in FMD, coronary artery in SCAD) and an age of onset under 50, in addition to a high proportion of female patients (75-90%). In addition, genetic predisposing factors may interact with the female specific context and disturb the artery structure and/or function resulting in a female specific propensity to these CVDs. The ROSALIND project aims to: 1) Decipher the genetic basis of FMD and SCAD using genome-wide association in case control cohorts; 2) Examine the functional significance of the genetic susceptibility variants at confirmed loci and their targeted genes using high throughput NGS-based genomic methods and 3) explore the link of genes in FMD susceptibility loci with vascular function by the analyses of engineered cell lines and total expression in human renal arteries . This project will provide an unprecedented resource of genetic, gene expression and functional genomics data that will be instrumental to guide the uncovering of new genes and mechanisms involved in FMD and SCAD. This project will help better understand the physiopathology and shed light on novel and promising therapeutic targets for the non-atherosclerotic arterial stenosis that characterize these female CVDs Fields of science medical and health sciencesclinical medicineangiologyvascular diseasesnatural sciencesbiological sciencesgeneticsDNAmedical and health sciencesbasic medicinephysiologypathophysiologymedical and health sciencesclinical medicineobstetricsmedical and health sciencesclinical medicinecardiologycardiovascular diseases Keywords Genome-wide association study Fibromuscular Dysplasia non-atherosclerotic artery stenosis women's cardiovascular health Programme(s) H2020-EU.1.1. - EXCELLENT SCIENCE - European Research Council (ERC) Main Programme Topic(s) ERC-2016-STG - ERC Starting Grant Call for proposal ERC-2016-STG See other projects for this call Funding Scheme ERC-STG - Starting Grant Host institution INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE Net EU contribution € 1 500 000,00 Address RUE DE TOLBIAC 101 75654 Paris France See on map Region Ile-de-France Ile-de-France Paris Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 1 500 000,00 Beneficiaries (1) Sort alphabetically Sort by Net EU contribution Expand all Collapse all INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE France Net EU contribution € 1 500 000,00 Address RUE DE TOLBIAC 101 75654 Paris See on map Region Ile-de-France Ile-de-France Paris Activity type Research Organisations Links Contact the organisation Opens in new window Website Opens in new window Participation in EU R&I programmes Opens in new window HORIZON collaboration network Opens in new window Total cost € 1 500 000,00
