GJC25F059

Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare genetic disorder that weakens muscles, including the heart. It is caused by mutations in genes that help maintain the structure of the cell nucleus. In this project, we aim to study how NEMP1 and SERTAD4 affect gene activity and muscle cell development, and to understand how they may contribute to EDMD pathological phenotype. To do this, we will use cutting-edge molecular biology techniques, including innovative methods developed by our laboratories (SAMMY-seq and 4f-SAMMY-seq), to analyze how the 3D structure of the genome is affected. By understanding the roles of NEMP1 and SERTAD4, our research could reveal new insights into how muscle differentiation is regulated at the molecular and cellular level. This knowledge may eventually help scientists develop treatments to slow or stop the progression of EDMD.