Grant: CIHR-ICRH Travel Awards - General pool

Aortic valve stenosis is a disease that is common in the aging population, costly to treat, and for which no pharmaceutical treatment exists. While a person's genetics contribute to their chances of developing the disease, the extent to which different genetic variants play a role is a poorly understood matter. In particular, no investigation has as of yet been conducted into genetic variants with a strong enough impact to be mostly or entirely responsible for the development of aortic stenosis. By analysing the detailed genetic information of 310 French-Canadian aortic stenosis patients, such variants were discovered, and the strength of their impact was confirmed by observing their presence in larger cohorts of individuals. In short, this project supports a potential role for 3 genes in the development of aortic stenosis, which could constitute important targets around which to develop pharmaceutical treatments.