Cancer; Patient Care

Judy Cho, MD - Genomics of IBD: Towards Precision Medicine
CME (AMA PRA Category 1 Credits™) 0.75; ACPE (UAN: 0853-9999-17-056-L01-P) 0.75; CEU (NSGC Category 1) 0.075; Attendance CEU 0.75

Monday, October 9
3:15 PM - 4:00 PM

Genome-wide association studies (GWAS) have identified over 200 loci associated to inflammatory bowel disease (IBD). GWAS newly implicated autophagy and has refined definition of the interleukin 23 (IL-23) pathway in IBD pathogenesis. Specifically, loss-of-function protein-altering alleles in the IL-23 receptor protect against developing IBD. Across chronic inflammatory diseases, those diseases that show similar associations to the IL-23 receptor (psoriasis, ankylosing spondylitis) map to those diseases for which blockade of the IL-23 pathway has proved effective. Protein-altering alleles are enriched among those variants implicated in a recent large fine-mapping effort, and have the further advantage of implicating specific genes at associated loci. Uncommon protein altering alleles in innate immune genes including NOD2 and LRRK2 (leucine rich repeat kinase 2) are strongly associated to Crohn’s disease, as well as an earlier age of onset, and small intestinal disease location. NOD2 combined with CSF2RB (GM-CSF receptor) associations have been observed in a large, multiply-affected kindred (53 affecteds), thereby highlighting genetic combinations that merit priority in model organism development. Integration of genetic and expression data can more accurately predict the more rapid development of Crohn’s disease complications. mRNA analyses of intestinal tissues obtained prior to treatment initiation have highlighted the role of myofibroblasts in predicting non-response to anti-TNF treatment. Taken together, these advances herald the beginning of Precision Medicine, where genomic advances in IBD can be applied in the clinic to more effectively treat patients affected by these disorders.

Learning Objectives:

Judy Cho

Director, Charles Bronfman Institutes for Personalized Medicine Ward-Coleman Professor of Translational Genetics & Medicine, Vice-Chair of Translational Genetics & Gastroenterology
Mount Sinai

Judy H. Cho, MD, is the Director of the Charles Bronfman Institute for Personalized Medicine (CBIPM), the Ward-Coleman Chair for Translational Genetics, and the Vice-Chair for Research in Gastroenterology at the Icahn School of Medicine at Mount Sinai. She is an international authority on IBD genetics and disease mechanisms and is leading efforts in developing novel translational approaches to study IBD. Dr. Cho has served as Chair of the Steering Committee and Principal Investigator of the Data Coordinating Center of the NIH-funded NIDDK IBD Genetics Consortium since 2003. In this capacity, she has led efforts in the identification of over 200 genetic regions associated to IBD. Since 2015, Dr. Cho has led the CBIPM, which includes the School's major biobank, named BioMe. This biobank includes samples and matched medical record information on over 39,000 Mount Sinai Health System patient volunteers, involving over 850,000 biospecimens. BioMe and CBIPM reflect the School's major commitment to Precision or personalized medicine, including Precision IBD to improve the care of patients on an individualized basis. Dr. Cho has served on the Council of the NIDDK, which advises the NIH on research funding priorities in digestive diseases. She has also served on the Council of the American Society of Clinical Investigation, which fosters physician-scientists committed to disease-focused discovery to benefit patients and is also a member of the American Association of Physicians. She has delivered multiple named lectureships and was awarded the Lifetime Achievement Award in Basic Science from the CCFA in 2014. Dr. Cho received her bachelor's and medical degrees from the Ohio State University in Columbus Ohio. She completed her internal medicine training at Northwestern University and her gastroenterology training at the University of Chicago.

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Judy Cho, MD - Genomics of IBD: Towards Precision Medicine
CME (AMA PRA Category 1 Credits™) 0.75; ACPE (UAN: 0853-9999-17-056-L01-P) 0.75; CEU (NSGC Category 1) 0.075; Attendance CEU 0.75



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Send Email for Judy Cho, MD - Genomics of IBD: Towards Precision Medicine
CME (AMA PRA Category 1 Credits™) 0.75; ACPE (UAN: 0853-9999-17-056-L01-P) 0.75; CEU (NSGC Category 1) 0.075; Attendance CEU 0.75