IPRD funded research by Jose Pinto
Pediatric cardiomyopathy is characterized by abnormalities in the structure or function of the heart muscle. Approximately 1,000 to 5,000 children are diagnosed with cardiomyopathy each year in the United States. In many children, cardiomyopathy will progress to overt heart failure. Nearly 40% of children who present with symptomatic cardiomyopathy undergo a heart transplantation or die within 2 years after diagnosis. In contrast to adult cardiomyopathies, limited pharmacologic interventions are available for pediatric cardiomyopathies. This research project characterizes human induced pluripotent stem cells (iPSC) harboring genetic mutations associated with pediatric cardiomyopathies to recapitulate the pathophysiological hallmarks of the disease to serve as a novel platform for drug discovery and development.
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