La Génétique Cardiovasculaire pour une Prévention Cardiovasculaire Personalisée II


George Thanassoulis

CUSM-Hôpital Royal-Victoria


Domaine : Santé circulatoire et respiratoire

Programme chercheurs-boursiers cliniciens - Junior 2

Concours 2016-2017

Aortic valve disease is the most common form of heart valve disease in the developed world and a
major burden to society. With the ageing of the Canadian population, aortic valve disease is expected to become increasingly common. Currently, over 2.5 million individuals in North America have aortic stenosis, which is a narrowing of the aortic valve, the main valve of the heart, and leads to heart failure and sometimes death. Despite the major burden of this disease, there are currently no medical treatments to prevent aortic stenosis due to our poor understanding of the causes of this disease.

Using cutting-edge genetic technologies, we plan to build on our recent genetic discovery linking an unusual type of cholesterol to this disease. In this proposed program, we propose to scan the entire DNA of several thousand individuals with and without aortic stenosis to try to pinpoint which additional DNA regions predispose to the development of this disease. We also plan to further understand how this unusual cholesterol we identified causes aortic stenosis.  Finally, we are currently testing in a small study whether lowering this form of cholesterol can stop the disease process.

If successful, our program would be notable in several ways. First, it will represent the largest genetic study of aortic stenosis worldwide. Second, we expect to glean major insights into the biology of aortic stenosis that may help us identify an eventual treatment. Third, we will determine whether a promising treatment for aortic stenosis actually works as expected. Ultimately, our work will pave the way for identifying a new treatment for aortic stenosis which would significantly impact the cardiovascular health of many individuals in Canada, Québec and throughout the world.