The Karakikes Lab aims to uncover fundamental new insights into the molecular mechanisms and functional consequences of pathogenic mutations associated with familial cardiovascular diseases.

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The overarching goal of our studies is to improve our understanding of the pathogenesis of familial cardiomyopathies, such as Hypertrophic Cardiomyopathy (HCM) and Dilated Cardiomyopathy (DCM). We utilize isogenic patient specific induced pluripotent stem cells (iPSCs) as a platform for disease modeling to gain insights on how rare mutations affect the cardiomyocyte biology and cardiac performance. By establishing a deep understanding of the biology of the disease, our studies represent a first definitive step in elucidating the genotype-phenotype associations in HCM and DCM toward applying a precision medicine approach to the treatment of cardiomyopathies.