INVITED AND SPECIAL SESSIONS
Wednesday, October 26
8:00 PM-10:00 PM
Concurrent Invited Sessions I (12-18)
SESSION 13 - Genetics of IBD: A Model for Complex Human Traits
Hall 2
Moderator: John D. Rioux, Harvard Medical School, Cambridge, MA
Crohn's disease (CD) and ulcerative colitis (UC) are idiopathic, inflammatory disorders of the gastrointestinal tract. These chronic IBDs (inflammatory bowel diseases) have a peak incidence in early adulthood and a combined prevalence of ~100-200 per 100,000 individuals. Epidemiological studies reveal a significant genetic contribution to the pathogenesis of IBD. Importantly, even though there are distinct phenotypic differences between CD and UC, multiple studies show that relatives with either CD or UC are at increased risk for developing either form of IBD. This suggests that although there are phenotype-specific susceptibility loci, at least some genes will be shared by UC and CD. Since 1996, multiple genomewide searches for IBD susceptibility loci have identified numerous genomic regions potentially containing IBD risk factors. Subsequent association studies using positional and candidate approaches have identified a few genes/regions that have been replicated in subsequent studies; CARD15, IBD5, DLG5 and others. These discoveries have placed the genetics of IBD in a near-unique situation of having identified multiple associated alleles and therefore IBD is a model for the "post-linkage" phase of a disease. Specifically this allows us to begin addressing topics of interest to all complex trait genetics:
1) Going from association to causality
2) Challenges of going from gene to disease mechanism
3) Understanding genotype-phenotype relationships
4) Exploring gene-gene and gene-environment interactions
5) Using genetics to advance molecular classification of disease
6) How the genetic knowledge can impact on clinical management of a common disease
The invited speakers represent the different fields of expertise that are crucial to going from associated allele to the clinic: clinicians, epidemiologists and geneticists.
8:00 PM Use of immuno-phenotypic markers to dissect the genetics of IBD. Huiying Yang, Cedars Sinai Medical Center, Los Angeles, CA.
8:24 PM Toward a comprehensive model of Crohn disease pathophysiology: From genes to function. Judy H. Cho, University of Chicago, IL.
8:48 PM Applying the knowledge of susceptibility alleles to the diagnosis and clinical management of IBD. Mark S. Silverberg, Mt. Sinai Hospital, Toronto, Ontario, Canada.
9:12 PM A consortium approach to definitive replication and genotype-phenotype studies. Richard H. Duerr, University of Pittsburgh, PA.
9:36 PM Exploring gene-gene and gene-environment interactions in IBD. Monika Stoll, Institute for Arteriosclerosis Research, Muenster, Germany.
