Presentation

Born on September 11 1949 in Paris.

Medical training and career

  • 1975-1979 : Medical intern (pediatrics)
  • 1981-1984 : Assistant Registrar, Hôpital Necker-Enfants malades, Pediatric Immunology and Hematology Unit (UIH)
  • 1984-1988 : Hospital practitioner, Hôpital Necker-Enfants malades, Pediatric Immunology and Hematology Unit
  • 1988 : University Professor, hospital practitioner, Hôpital Necker-Enfants malades, Pediatric Immunology and Hematology Unit
  • 1996-2012 : Head of Department, Pediatric Immunology and Hematology Unit, Hôpital Necker-Enfants malades : 30 beds , treating children with hereditary and acquired immune system disorders : hereditary and acquired immune deficiencies, rheumatological and autoimmune inflammatory diseases

Scientific training and career

  • 1975 : DEA in biochemistry (immunology) Paris-VII
  • 1979 : Doctorat de3e cycle biochimie (immunologie) Paris-VII
  • 1980-1981 : Postdoctoral position at University College (London), laboratory of Profs M. Feldmann and PCL. Beverley
  • 1981-1991 : Team leader, INSERM Unit 132 " Pediatric immunology and rheumatology ", Hôpital Necker-Enfants malades, Paris
  • 1991-2013 : Director of INSERM Unit 768 " Normal and pathological development of the immune system "
  • 2000-2013 : Vice-President of the Institut Fédératif de Recherche - Hôpital Necker-Enfants malades
  • 2007-2016 : Director of theInstitut hospitalo-universitaire - Imagine, which brings together researchers from 21 laboratories, 2 terms)

Research topics

T-cell development and its abnormalities

T lymphocytes, the hub of adaptive immunity, are essential for life beyond a few months. Children born without T lymphocytes - pathologies collectively known as severe combined immunodeficiency (SCID) - cannot contain many bacterial, fungal, parasitic or viral infectious agents.

Together with Jean-Pierre de Villartay, we have been studying these pathologies in order to understand their molecular basis, i.e. which molecules are essential for the development of these cells, from bone marrow to thymus. In this way, we were able to show that one variety of SCID is characterized by increased sensitivity of patients' cells to the action of ionizing radiation, a property suggestive of a defect in the DNA repair system required for T (and B) lymphocyte differentiation. A few years later, using genetic mapping techniques, it was possible to identify the gene responsible and show that the deficient protein, called Artemis, plays an essential role in a DNA break repair pathway known as non-homologous junction repair of DNA double-strand breaks. In fact, during the differentiation of T and B lymphocytes, the genes encoding antigen receptor proteins (which detect the presence of molecules from microorganisms) undergo a process of genetic recombination, resulting in clonal diversity (each clone recognizes a distinct antigen). Recombination is broken down into ordered DNA strand breaks, followed by repair of these breaks, a process that involves Artemis. Later, the same approach based on the observation of another form of DICS led to the identification of another non-homologous DNA break repair factor called Cernunnos, which is involved in the final phase of DNA strand religation.