Viegas-Pequignot Lab Profile

Research Focus: Epigenetic, Pathologies and Development

An increasing number of human diseases are now known to result from mutations in genes encoding chromatin remodeling enzymes. The resulting inappropriate protein expression can disrupt the balance of epigenetic networks and disturb the maintenance and the transmission of a given chromatin state. We have focused our activity on the ICF syndrome (Immunodeficiency, Centromeric instability, Facial anomalies), which was the first example of a human disease linked to a constitutive defect of DNA methylation. We are now interested in other human diseases closely related to the ICF syndrome and in the development of animal models deficient in components of the DNA methylation machinery. Our aim is to establish the nature of the cellular and molecular epigenetic defects underlying various pathologies and to identify the embryonic stage at which the defect occurs. The reversibility and transmissibility of certain epigenetic modifications and the identification of the epigenetic defects associated with the diseases can facilitate the development of targeted therapeutic strategies.