Research Focus and Main research questions
Functional Genomics of Inherited Cardiomyopathies:
Our projects aim at deciphering the contribution of microtubule modifications, ubiquitin-proteasome system and autophagy-lysosomal pathway in inherited cardiomyopathies and to test drug- and nucleic acid-based therapy options. Our main questions are:
- Do sarcomeric mutations alter contractile and electrophysiological phenotype of human induced-pluripotent stem cell (iPSC)-derived cardiomyocytes and engineered heart tissues (EHTs)? Can we specifically target functional alterations with drug- and nucleic acid therapy as personalised medicine?
- Do human iPSC-derived cellular models of modified microtubules develop functional alterations in EHTs? What is the impact of modified microtubules on the transport of autophagosomes, lysosomes and mitochondria? Can we improve autophagic flux and/or proteasomal activities by targeting microtubule modification? What is the impact of targeting microtubule modifications in mouse and human cellular models of hypertrophic cardiomyopathy?
- How to reduce proteotoxicity in mouse and human iPSC-derived cellular models of desmin-related cardiomyopathy?