Inga Peter
Icahn School of Medicine at Mount Sinai, USA
Title: Genetics of Inflammatory Bowel Disease
Biography
Biography: Inga Peter
Abstract
Crohn’s disease (CD) and ulcerative colitis are inflammatory conditions, collectively referred to as inflammatory bowel disease (IBD), which results from defects in the regulation of mucosal immune responses to enteric bacteria in genetically susceptible individuals. Multiple lines of evidence suggest a genetic contribution to the pathogenesis of IBD, which include racial and ethnic differences in disease prevalence, familial aggregation and link to other genetic syndromes. Recent genome-wide association studies (GWAS) have identified >200 genetic variants associated with IBD risk, some of which have functions in biological pathways of pathogen recognition, internalization and autophagy. However, GWAS-identified loci have explained less than a quarter of the heritability estimated for IBD and many are confined to noncoding regions, requiring further studies to understand their role in disease pathogenesis. Recently, next generation sequencing efforts, most successful in isolated populations and individuals with early age of onset and/or significant family history of IBD, identified rare coding variants associated with IBD risk that are more amenable to functional studies than GWAS loci. Also, a number of genetic variants have been linked to adverse events resulting from IBD therapies, particularly thiopurine exposure, including bone marrow toxicity and pancreatitis. Yet, despite substantial progress in the field of genetics and genomics of IBD, reliable tools to identify individuals at risk, determine disease progression and predict response to therapies are still lacking. More comprehensive approaches that incorporate clinical, genetic, epigenetic, metabolomic, and microbiome data need to be developed to allow for an early diagnosis and personalized treatment for IBD.