CHOP Research Institute

Center for Applied Genomics

Today's Research Becomes Tomorrows Cure

Inflammatory bowel disease (IBD) affects the gastrointestinal tract, and may cause pain, diarrhea, and vomiting, and can result in significant weight loss. We have pioneered a series of studies, identifying a number of genetic variants now known to be intimately linked to the biology of IBD.

We were the first group to identify a close genetic relationship between early- and adult-onset IBD, and the first group to demonstrate the power of stratification of IBD by age of onset to identify genetic risk factors. We also leveraged IBD phenotypes to pioneer an important proof-of-principle to show the power of gene pathway approaches to uncovering risk loci.

Several recent studies have used transcriptome profiling to identify altered expression in pathways enriched for IBD-susceptibility loci, and used exome sequencing to further elucidate risk variants unique to IBD and shared with other diseases. We also have a mature translational program exploring novel therapeutics for both Crohn's and ulcerative colitis.