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J. Carter Ralphe, Associate Professor, Pediatric Cardiology, ” Functional iPSC Models of Human Cardiomyopathy”
September 11, 2018 @ 12:00 pm - 1:00 pm
An event every week that begins at 12:00pm on Tuesday, repeating until December 11, 2018
Topic: Functional iPSC Models of Human Cardiomyopathy
Abstract: The advent of induced pluripotent stem cells (iPSCs) derived from human subjects creates the opportunity to study certain diseases with an entirely human context. Cells that make up the human myocardium (cardiomyocytes, fibroblasts, endothelial cells) can be readily differentiated from iPSCs. Gene editing technology now permits targeted manipulation of the genetic code within iPSCs to both create and correct models of disease. Genetic hypertrophic cardiomyopathies (HCM) are a family of diseases caused by mutations in genes of the cardiac sarcomere and regulatory pathways which cause progressive hypertrophy and/or dilation of the heart leading to failure and arrhythmias. Inherited as single gene mutations in an autosomal dominant fashion with highly variable penetrance, HCM impacts up to 1 in 200 individuals. Using iPSC derived cardiomyocytes grown in a 3D engineered tissue model, we study the basic contractile abnormality associated with the primary mutations, and look for early tissue remodeling response which may suggest novel therapeutic targets. This lecture will discuss several model systems used to study human cardiac function, highlighting some of the advantages and limitations of these systems. Finally we will consider how patient derived iPSC cardiac cells may be applied to generate a systems biology perspective on the pathophysiology of HCM.