Dr Patrick Revy is a research director at the Centre National de la Recherche Scientifique (CNRS). He obtained his PhD degree in immunology in 1999. He co-heads with Jean-Pierre de Villartay an INSERM Team « Genome Dynmics in the Immune System » within the Imagine Institute headed by Pr. Stanislas Lyonnet. The primary goal of the Team is to identify the molecular mechanisms of genetic disorder of the immune system accompanied by DNA repair defect and/or telomere dysfunction in humans. This serves as the basis for both basic studies on the function and the regulation of the immune system and for medical applications in the diagnosis and treatment of diseases. Patrick Revy has contributed to the identification of several molecular defects associating DNA repair/modification or telomere dysfunction with immunodeficiencies including AID, UNG, ATR, RTEL1, Apollo, HEBO, CERNUNNOS. More recently he identified EFL1 mutations as a novel cause of Shwachman-Diamond syndrome, a bone marrow failure syndrome associated with defect in teminal maturation of ribosomes. His work also provided functional information concerning some of these factors. He developed the different techniques required to study the physiology of telomere, DNA replication (including molecular combing), and DNA repair. More recently he developed CRISPR/Cas9 technology to generate KO and KI cell lines and animal models to further analyse the in vivo consequences of defect of some of these fators.