< Back to previous page
- Research Expertise:My research aims to further elucidate the genetics and molecular pathomechanisms underlying inherited cardiac arrhythmias and cardiomyopathies, discover new therapeutic targets and translate the novel findings into clinical care. For the identification of novel genes and genetic modifiers, I am performing linkage analysis, whole-exome sequencing (WES) and whole-genome sequencing (WGS) in patients and their families. To study the functional effects of the discovered variants, I am creating induced pluripotent stem cells (iPSCs) of both patients and control individuals and differentiate these further into cardiomyocytes (iPSC-CMs) as a patient-specific 2D cellular disease model. These cell models are then investigated using patch-clamping, fluorescence microscopy and immunostaining or live imaging, qPCR or RNA-seq for expression profiling and Western blot or proteomics to study proteome differences. In future, I intend to use these iPSC-CM models in high-throughput drug screening as well as in personalized medicine.
- Keywords:CARDIAC ARRHYTHMIA, INDUCED PLURIPOTENT STEM CELLS, GENE IDENTIFICATION, GENETIC MODIFIER, Biomedical sciences (incl. biochemistry)
- Disciplines:Cardiology, Genetics, Molecular and cell biology
- Research techniques:Linkage analysis, whole-exome sequencing (WES) and whole-genome sequencing (WGS) data analysis, generation of induced pluripotent stem cells (iPSCs), generation of iPSC-derived cardiomyocytes (iPSC-CMs) as patient-specific 2D cellular disease models, fluorescence microscopy, patch-clamping, qPCR, RNA-sequencing, Western blot.
- Users of research expertise:Other researchers, pharmaceutical companies, companies involved in molecular diagnostics