ANR LEARN : Julien BARC (2021-2024)

Julien Barc is the scientific leader of the ANR funded project : Molecular mechanism of a new cardiac syndrome associated with an enhancer deletion

Abstract

The translational research project LEARN combines multi-omics approach and phenotype characterization to decipher the molecular mechanism leading to a new syndrome associating cardiac electrical disorders and developmental defects. Large deletions, identified in 6 families, located in a gene desert area suggest the crucial role of a regulatory region. Based on human cardiomyocytes derived from iPSC and mouse model deleted for this regulatory region, we will investigate the role, targeted genes, the transcriptomic, electrophysiological consequences of this deleted regulatory element.