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Judy Cho

  • SENIOR FACULTY Genetics and Genomic Sciences
  • SENIOR FACULTY Medicine, Gastroenterology
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    Dr. Cho has extensive experience in defining genetic factors underlying susceptibility to inflammatory bowel disease (IBD). She was the senior investigator reporting the initial associations of NOD2 to Crohn’s disease, the IBD GWAS first identifying the interleukin 23 receptor associations, and most recently, the IBD Immunochip manuscript identifying 163 IBD-assoicated loci. She is particularly interested in defining the genetic architecture underlying the higher IBD prevalence among Ashkenazi Jews. Her laboratory is interested in defining the genetic architecture underlying differentiation of distinct immune cell subsets, differences in epigenetic landscape of immune cell subsets and their effects in IBD. For the past twelve years, Dr. Cho has served as chair of the steering committee and Principal Investigator of data coordinating center for the 7 center NIDDK IBD Genetics Consortium (IBDGC); as such, she has extensive experience in leading multi-investigator research groups. During the present period of funding, the IBDGC has been charged with developing new collaborations in order to define the functional effects of IBD-associated variants. In this capacity, we have supported a variety of ancillary R01 applications from multi-disciplinary collaborators (epigeneticists, immunologists, systems biologists) in order to fully leverage the extensive IBD genetic discoveries. The Icahn School of Medicine at Mount Sinai has a storied history in IBD research, starting with the initial description of Crohn’s disease by Beryl Crohn at Mount Sinai in 1932. Mount Sinai is a major referral center for IBD in New York, and as such has an unprecedented access to intestinal IBD tissue. These unparalleled strengths in clinical IBD, combined with strengths in systems biology (Schadt) and Human Immune Monitoring (Merad), at Mount Sinai, form the basis of this proposal.


  • 2014 -
    CCFA Scientific Achievement in IBD Basic Science Award

  • 2014 -
    Member, American Association of Physicians (AAP)

  • 2013 -
    Clinical Research Forum, Top 10 Research Achievements Award 2013

  • 2012 - 2015
    Member, Research Policy Committee, American Gastroenterological Association

  • 2011 - 2015
    NIDDK Advisory Council

  • 2010 -
    NIH Wednesday Afternoon Lecture seminar

  • 2008 - 2011
    Member, American Society of Clinical Investigation Council 2008-2011

  • 2007 - 2011
    Editorial Board, American Journal of Human Genetics

  • 2007 - 2012
    Editorial Board, Human Molecular Genetics

  • 2005 -
    Member, American Society of Clinical Investigation

  • 2004 - 2008
    Member, Genetics of Health and Disease study section


Genetics and Environmental Factors associated with Inflammatory Bowel Disease

Inflammatory Bowel Disease (IBD) is a group of conditions of the gastrointestinal tract with chronic or recurring immune response and inflammation. The two most common types are Ulcerative Colitis (UC) and Crohn’s Disease (CD). Other types of IBD include Indeterminate Colitis (IC) and Inflammatory Bowel Disease Unclassified (IBDU). These are considered more as temporary diagnoses when the difference between UC and CD cannot be determined at the time of presentation. In the United States, about 1 – 1.3 million people suffer from IBD. Although IBD can affect people of all ages, the peak age of onset is between 15 and 30 years old. The exact cause of IBD is not entirely understood, but it is known to involve an interaction between genes, the immune system, and environmental factors.


Hedl M, Lahiri A, Ning K, Cho JH, Abraham C. Pattern recognition receptor signaling in human dendritic cells is enhanced by ICOS ligand and modulated by the Crohn's disease ICOSLG risk allele. Immunity 2014 May; 40(5).

Palm NW, de Zoete MR, Cullen TW, Barry NA, Stefanowski J, Hao L, Degnan PH, Hu J, Peter I, Zhang W, Ruggiero E, Cho JH, Goodman AL, Flavell RA. Immunoglobulin A coating identifies colitogenic bacteria in inflammatory bowel disease. Cell 2014 Aug; 158(5).

Zhang W, Hui K, Gusev A, Warner N, Ng S, Ferguson J, Choi M, Burberry A, Abraham C, Mayer L, Desnick R, Cardinale C, Hakonarson H, Waterman M, Chowers Y, Karban A, Brant S, Silverberg M, Gregersen P, Katz S, Lifton R, Zhao H, Nunez G, Pe'er I, Peter I, Cho J. Extended haplotype association study in Crohn’s disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3. Genes and Immunity 2013;.

Shen H, Zhang W, Abraham C, Cho JH. Age and CD161 expression contribute to inter-individual variation in interleukin-23 response in CD8+ memory human T cells. PloS one 2013; 8(3).

Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, Lee JC, Schumm LP, Sharma Y, Anderson CA, Essers J, Mitrovic M, Ning K, Cleynen I, Theatre E, Spain SL, Raychaudhuri S, Goyette P, Wei Z, Abraham C, Achkar JP, Ahmad T, Amininejad L, Ananthakrishnan AN, Andersen V, Andrews JM, Baidoo L, Balschun T, Bampton PA, Bitton A, Boucher G, Brand S, Büning C, Cohain A, Cichon S, D'Amato M, De Jong D, Devaney KL, Dubinsky M, Edwards C, Ellinghaus D, Ferguson LR, Franchimont D, Fransen K, Gearry R, Georges M, Gieger C, Glas J, Haritunians T, Hart A, Hawkey C, Hedl M, Hu X, Karlsen TH, Kupcinskas L, Kugathasan S, Latiano A, Laukens D, Lawrance IC, Lees CW, Louis E, Mahy G, Mansfield J, Morgan AR, Mowat C, Newman W, Palmieri O, Ponsioen CY, Potocnik U, Prescott NJ, Regueiro M, Rotter JI, Russell RK, Sanderson JD, Sans M, Satsangi J, Schreiber S, Simms LA, Sventoraityte J, Targan SR, Taylor KD, Tremelling M, Verspaget HW, De Vos M, Wijmenga C, Wilson DC, Winkelmann J, Xavier RJ, Zeissig S, Zhang B, Zhang CK, Zhao H, Silverberg MS, Annese V, Hakonarson H, Brant SR, Radford-Smith G, Mathew CG, Rioux JD, Schadt EE, Daly MJ, Franke A, Parkes M, Vermeire S, Barrett JC, Cho JH. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 2012 Nov; 491(7422).

Kenny EE, Pe'er I, Karban A, Ozelius L, Mitchell AA, Ng SM, Erazo M, Ostrer H, Abraham C, Abreu MT, Atzmon G, Barzilai N, Brant SR, Bressman S, Burns ER, Chowers Y, Clark LN, Darvasi A, Doheny D, Duerr RH, Eliakim R, Giladi N, Gregersen PK, Hakonarson H, Jones MR, Marder K, McGovern DP, Mulle J, Orr-Urtreger A, Proctor DD, Pulver A, Rotter JI, Silverberg MS, Ullman T, Warren ST, Waterman M, Zhang W, Bergman A, Mayer L, Katz S, Desnick RJ, Cho JH, Peter I. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. PLoS genetics 2012; 8(3).

Kang J, Kugathasan S, Georges M, Zhao H, Cho JH. Improved risk prediction for Crohn's disease with a multi-locus approach. Human molecular genetics 2011 Jun; 20(12).

Cho JH, Gregersen PK. Genomics and the multifactorial nature of human autoimmune disease. The New England journal of medicine 2011 Oct; 365(17).

Cho JH, Gregersen PK. Genomics and the multifactorial nature of human autoimmune disease. The New England journal of medicine 2011 Oct; 365(17).

Kang J, Cho J, Zhao H. Practical issues in building risk-predicting models for complex diseases. Journal of biopharmaceutical statistics 2010 Mar; 20(2).

Silverberg MS, Cho JH, Rioux JD, McGovern DP, Wu J, Annese V, Achkar JP, Goyette P, Scott R, Xu W, Barmada MM, Klei L, Daly MJ, Abraham C, Bayless TM, Bossa F, Griffiths AM, Ippoliti AF, Lahaie RG, Latiano A, Paré P, Proctor DD, Regueiro MD, Steinhart AH, Targan SR, Schumm LP, Kistner EO, Lee AT, Gregersen PK, Rotter JI, Brant SR, Taylor KD, Roeder K, Duerr RH. Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. Nature genetics 2009 Feb; 41(2).

Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, Brant SR, Silverberg MS, Taylor KD, Barmada MM, Bitton A, Dassopoulos T, Datta LW, Green T, Griffiths AM, Kistner EO, Murtha MT, Regueiro MD, Rotter JI, Schumm LP, Steinhart AH, Targan SR, Xavier RJ, Libioulle C, Sandor C, Lathrop M, Belaiche J, Dewit O, Gut I, Heath S, Laukens D, Mni M, Rutgeerts P, Van Gossum A, Zelenika D, Franchimont D, Hugot JP, de Vos M, Vermeire S, Louis E, Cardon LR, Anderson CA, Drummond H, Nimmo E, Ahmad T, Prescott NJ, Onnie CM, Fisher SA, Marchini J, Ghori J, Bumpstead S, Gwilliam R, Tremelling M, Deloukas P, Mansfield J, Jewell D, Satsangi J, Mathew CG, Parkes M, Georges M, Daly MJ. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nature genetics 2008 Aug; 40(8).

Industry Relationships

Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device and biotechnology companies to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their relationships with such companies.

Dr. Cho did not report having any of the following types of financial relationships with industry during 2014 and/or 2015: consulting, scientific advisory board, industry-sponsored lectures, service on Board of Directors, participation on industry-sponsored committees, equity ownership valued at greater than 5% of a publicly traded company or any value in a privately held company. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.

Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website at Patients may wish to ask their physician about the activities they perform for companies.

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