Professional titles: Professor of Pediatrics (Faculty of Medicine, Paris Diderot University), Head of Department of Pediatric Gastroenterology and Nutrition (Robert Debré Hospital), Head of Research Unit (U843 INSERM, Paris Diderot University)
Date of primary qualification: 1994
Current institutions: Paris Diderot University, Robert Debré Hospital, Paris, France
Title of invited presentation:
Genetics of inflammatory bowel diseases
Learning objectives:
To understand the complex genetic model underlying the genetic susceptibility to IBD. To know the main results obtained by the recent genetic studies performed on IBD. To know the clinical impact of genetics in practice. To understand the advances and limits of genetic studies.
Background
- Graduation in pediatric gastroenterology, assistant professor and professor (since 2003) at Robert Debré Hospital, Paris (Prof Navarro and Prof Cézard).
- PhD at Institut Curie (Prof Thomas) in 1996 (localisation of the first IBD susceptibility locus). Post-doc fellowship (1996-1998) at Foundation Jean Dausset - CEPH (identification of NOD2 as a Crohn Disease susceptibility gene). Leader of a research team on inflammatory bowel diseases since 1998.
Relevant publications within the last 5 years
- Barrett JC, et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nature Genet. 2008.
- Thiébaut R et al. TNFSF15 polymorphisms are associated with susceptibility to inflammatory bowel disease in a new European cohort. Am J Gastroenterol. 2009; 104: 384-91.
- Imielinski M et al. Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet. 2009; 41: 1335-40.
- Franke A et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet. 2010; 42: 1118-25.
- Momozawa Y et al. Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. Nat Genet. 2010 Dec 12.
- Rossin EJ et al. Proteins encoded in genomic regions associated with immune-mediated disease
- physically interact and suggest underlying biology. PLoS Genet. 2011 Jan 13;7(1):e1001273.
- Begue B et al. Defective IL10 Signaling Defining a Subgroup of Patients With Inflammatory Bowel Disease. Am J Gastroenterol. 2011; 106: 1544-55.
- Rivas MA et al. Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet. 2011; 43: 1066-73.40.
- Debret G et al. Genetic susceptibility to a complex disease: the key role of functional redundancy. Hist Philos Life Sci. 2011;33(4):497-514.
- Jostins L et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 2012; 491: 119-24.
Information submitted for ESCP Belgrade 2013
