Judy H. Cho, M.D.

Associate Professor of Medicine and Genetics
Section of Digestive Diseases
Director, Inflammatory Bowel Disease Center
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Research Interests

My research focuses on identifying genetic variation that affects susceptibility to and expression of inflammatory bowel disease (IBD). Our laboratory identified that amino acid changes in the Nod2 (CARD15) gene markedly increase susceptibility to Crohn's disease (CD). However, the Nod2 associations do not account for all of the genetic risk in IBD, and so a major focus of research interest is the identification of additional genetic variation contributing to these disorders. Towards these ends, I serve as Principal Investigator of the Data Coordinating Center and Chair of the Steering Committee of the IBD Genetics Consortium of the NIH/NIDDK (National Institutes of Diabetes and Digestive and Kidney Diseases). This Consortium involves an active collaboration between seven academic centers throughout the United States and Canada. By pooling efforts and resources, this Consortium provides the statistical power to identify genuine disease associations in a highly efficient manner.

Currently, we are performing a genome-wide association study in CD involving the typing of over 300,000 markers throughout the genome that assays approximately 80% of the common genetic variation in European ancestry populations. The advances of the Human Genome Project are making possible the very efficient,comprehensive typing of human genetic varation. The magnitude of the information available on individual genetic variation has the potential of markedly increasing our understanding of disease processes and tailoring treatment and prognosis for individual patients. The translation of genetic information to clinical practice will require creative integration of disciplines including clinical practice, immunology, biostatistics, microbiology, pharmacology and cellular biology.

Contact

Campus Address
Department of Internal Medicine
333 Cedar Street
New Haven, CT 06520

E-mail
judy.cho@yale.edu

Office Phone
203-785-4138