Mary Gates Research Scholar, Winter 2020
Project Description: Arrhythmogenic cardiomyopathy is a devastating inheritable heart disease characterized by lethal heart rhythms and abnormal contractile function that can lead to sudden cardiac death or congestive heart failure. Approximately 1 in 2000 to 1 in 5000 people of the general population are thought to have mutations that lead to arrhythmogenic cardiomyopathy. More than 70% of arrhythmogenic cardiomyopathy cases are due to mutations in desmosomal proteins, which are essential for maintaining structural integrity and intercellular junctions at the intercalated discs in the heart. Two patients with mutations in desmoplakin, a desmosomal protein, have been identified. From these patients, peripheral blood mononuclear cells are isolated and turned into human induced pluripotent stem cells. These patient derived induced pluripotent stem cells are then differentiated into cardiomyocytes to be used as a model for arrhythmogenic cardiomyopathy.
What piece of advice do you have for future applicants?
If you are passionate about your research, then it will reflect well on your application. Be sure to choose a field you are truly interested in as well as a project you will be motivated to work on.