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Approved research

Investigating genetic predisposition for heart valve dysfunction

Principal Investigator: Professor Guillaume Lettre
Approved Research ID: 40663
Approval date: December 10th 2018

Lay summary

Heart valve surgery is one of the most frequent surgical interventions in the world and still poses great risks. Surgery is often necessary to replace diseased valve tissue of the heart. The heart contains a total of four valves that have the critical role of limiting blood flow in the heart towards one direction. A healthy heart valve opens and closes approximately 100,000 times a day, putting a lot of physical pressure on the tissue. Heart valve disease is very frequent and affects almost 2 in 100 people with increasing occurrence in the older population. Recent research has shown that genetic factors play a crucial role in the development and progression of valve disease. We aim to identify genes underlying heart valve diseases in order to better predict who will develop valve disease and how we can more effectively treat different forms of valve disease. Using large collections of genetic information from many individuals with different forms of valve disease and comparing them to individuals that do not have valve disease can enable the association of valve disease with previously unknown genes and genomic regions. The identification of new genetic factors that contribute to the development of valve disease can provide new targets for researchers to investigate in order to ultimately develop new treatment approaches for valve disease. The project is estimated to take approximately 3 years. The findings of this research project can directly impact how we evaluate genetic findings in the context of heart valve disease. As genetic data becomes more readily available in the clinic, it will be increasingly important to accurately predict disease risk for a common cardiac complication such as valvular disease to more accurately treat and follow patients that are predisposed for disease. By finding new genes involved in valve development and disease, this project has the potential to provide novel avenues for the basic research on the heart valves and open up previously undiscovered treatment possibilities.