A postdoctoral position is available from July 2021 in the “Genetics and Development of Cardiac Defects” team led by S. Zaffran. We aim to understand the pathogenic mechanisms underlying hypertrophic cardiomyopathy (HCM). Familial HCM is often considered to be a sarcomeric disease, since many inherited mutations have been found in sarcomere-related genes. However, the mutations identified so far only account for ~50% of familial HCM patients, implying that other genes and pathogenic mechanisms remain to be discovered. Using local cohort of patient with HCM we have identified novel candidate genes for this cardiac disease. The project will determine the impact of missense variant identified in candidate genes on the development of the heart and subsequently on cardiomyocyte proliferation. The postdoc will study genotype/phenotype correlations by using generating novel transgenic model and decipher the pathological contribution of representative variants in the mouse model as well as in vitro iPS cells. We expect that the results of this work will help in understanding the heterogeneity of patients and identify novel therapeutic targets.

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