Hypertrophic cardiomyopathy: from gene identification to individualized therapy

Goals of this project are : i) to search for mutations in patients with HCM and to evaluate the molecular pathways in several human samples (blood, septal myectomies, skin biopsy); ii) to model HCM in the dish in both 2D culture of cardiac myocytes and 3D engineered heart tissues (EHT) obtained from iPSC-derived from HCM patients’ skin biopsy. Evaluation of contractile function and electrophysiological properties. iii) to evaluate different molecular therapies in human cardiac myocytes and EHT. Therefore, we also plan to use the CRISPR-Cas9 technology to remove the mutation in iPSC, which will be then used as controls for disease phenotype and molecular therapy.