Judy H Cho MD
Henry J. and Joan W. Binder Professor (Adjunct) of Medicine (Digestive Diseases) and Professor of Genetics and of Pediatrics (Gastroenterology); Director, Inflammatory Bowel Disease Center
Inflammatory Bowel Disease (IBD); identifying genetic variation that affects susceptibility to and expression of Inflammatory Bowel Disease (IBD)
Current ProjectsThere are three major areas of research interest in the laboratory.
- Defining genetic factors contributing to IBD development. Genome-wide association studies sample a large fraction of common variation contributing to disease, but due to linkage disequilibrium patterns, typically do not identify causal alleles and/or rare variants contributing to disease. Comparative population studies provide insight into alternative mechanisms of disease pathogenesis. In addition, consideration of locus-locus interactions may provide additional power to define altered pathways contributing to disease pathogenesis.
- Genotype-phenotype mapping. We are examining the functional effects of interleukin 23 pathway polymorphisms on leukocyte responses, with a particular emphasis on IL23R, IL12B, and PTPN2 polymorphisms known to contribute to IBD. In particular, genotype-dependent altered expression and function of IL23R in naïve vs. memory T lymphocytes are being examined.
- Biomarker development in IBD. The development and assessment of improved therapies in IBD will be significantly enhanced by improved biomarkers to assess disease activity based on new understanding of disease mechanisms, especially with respect to the interleukin 23 pathway.
My laboratory studies the genetics of inflammatory bowel disease (IBD), comprised of Crohn’s disease and ulcerative colitis. These chronic inflammatory disorders of the intestine affect children and young adults and are associated with significant morbidity. We have utilized genome-wide association approaches to identify common variants contributing to disease. We have established central roles for the interleukin 23 pathway, autophagy, and host recognition of innate immune bacterial signals (NOD2 pathway) in disease pathogenesis. Of particular interest is the identification of multiple, independent signals within the interleukin 23 receptor (IL23R) as being associated with both Crohn’s disease and ulcerative colitis. It is known that intact, wild-type IL-23 pathway function is required to mediate multiple murine models of intestinal inflammation. Our laboratory is examining the downstream consequences of IBD-associated functional polymorphisms, especially with respect to regulation of IL23R expression, JAK-STAT activation and IL-22 secretion.etics study ALFRED: ALlele FREquency Database