Phenotypic characterization of induced pluripotent stem cell-derived cardiomyocytes from an arrhythmogenic cardiomyopathy patient carrying a pathogenic variant in DSP
De Bleeckere Lea, 2022
Arrhythmogenic cardiomyopathy is a genetic disease that affects around 1:1000 to 1:5000 people. Patients with this disease are at higher risk of sudden cardiac death, and sometimes no symptoms appear before it is too late. It affects rather young people in their forties. However, the disease remains largely misunderstood. For this reason, the present thesis tries to shed light on the early mechanisms that occur in the heart and that lead to the development of arrhythmogenic cardiomyopathy. The aim is to get a better understanding of the disease so that, in the future, a targeted therapy becomes available to help the patients, improving their quality of life as well as their life expectancy. The topic is of general interest for the healthcare sector with a focus on patient wellbeing.
Promotor | Jolanda van Hengel |
Opleiding | Biomedische Wetenschappen |
Domein | Tissue Engineering and Regenerative Medicine |
Kernwoorden | Cardiomyopathy, stem cells, iPSC, desmoplakin |