Project 458349

The heart consists of four chambers, two atria and two ventricles, whose contractions must be coordinated for the efficient pumping of blood to the entire body. If this coordination is affected, it could lead to sudden cardiac death. Specifically, arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disease that results in a disrupted contraction of the ventricles that can be fatal. ARVC affects 1 in 5000 people, including the elderly and young people- even athletes. One of the genetic mutations that causes ARVC is in a gene called TMEM43, which was first found in Newfoundland, Canada. The current treatment involves the implantation of a defibrillator that generates electric shocks to set the heart back into a regular rhythm, which is lifesaving but painful and strongly impacts quality of life. Currently, we do not have any suitable models to study human ARVC in the lab. My project aims to create a model that mimics this disease outside the body. This model will allow me to discover how the genetic mutation causes ARVC and to identify druggable targets that will enable the development of effective and painless treatments in the future.