The involvement of epigenetic variability in the context of rare diseases remains poorly explored but might be significant in many cases, given the absence of correlation between the genetic defects, variability of symptoms and disease penetrance from patient to patient or within families. Our projects, combining molecular and cellular biology, genomics and medical sciences, is focused on understanding the epigenetic mechanisms involved in human pathologies, particularly rare diseases.
In this context, we are particularly interested in the epigenetic variability and regulation of subtelomeric regions in human diseases. We aim at understanding the functional interactions between telomeres, identical from one chromosome to another and chromosome-specific subtelomeric regions and investigated how these regions contribute to pathologies, especially through the exploration of Facio-Scapulo-Humeral Dystrophy (FSHD), a peculiar muscular dystrophy linked to subtelomeric imbalance. To achieve these goals, we have gathered tools and expertise for the diagnosis of this complex disease and more recently focused on the development of hiPSCs-based models for modeling pathologies affecting skeletal muscles and neuromuscular junctions. Our project is thus organized around two main axis, one focused on the exploration of epigenetic alterations in neuromuscular disorders, mainly FSHD and the second, on the development of cellular models and tools for the exploration of patho-mechanisms associated with neuromuscular diseases. In this context, continuously collaborate with hospital services and gathered large collections of biological samples that can be exploited experimentally, in particular through the production of induced pluripotent cells (hiPSCs) and the development of new methods for the targeted differentiation of these cells and disease modeling.