Spearker Dr Christopher Toepfer, Associate Professor of Cardiovascular Science, Sir Henry Dale Fellow of the Wellcome and Royal Society, British Heart Foundation Centre of Research Excellence Intermediate Transition Fellow, Radcliffe Department of Medicine, University of Oxford

Title Understanding inherited cardiomyopathies using human cellular systems and genetic engineering

Host Elisabetta Brunello

 

Abstract In this talk I will share our groups work on furthering the mechanistic understanding of inherited cardiomyopathies. We use a combination of human model systems and CRISPR/Cas-9 engineering to model human relevant disease pathomechanisms across the major hypertrophic and dilated cardiomyopathy disease genes. I will outline our use of genetically encoded live cell sensors and computational analysis pipelines used in combination with iPSC derived cardiomyocytes to gain insight into the functional effects of gene variants that drive disease. I will discuss recent work on defining 3D model systems including engineered tissues and organoids to capture more complex cellular interactions in cardiovascular disease. With a discussion on the use of in-silico modelling to accelerate and guide in-vitro experiments to define pathomechanisms and drug targets.