Renewal of the NIDDK Inflammatory Bowel Disease Genetics Consortium (IBDGC)

May 2020 Council

Lead Division/Office

DDN

Point(s) of Contact

Robert W. Karp, Ph.D.; Peter Perrin, Ph.D.

Executive Summary

The NIDDK IBD Genetics Consortium (IBDGC, or the Consortium) has led international efforts which have resulted in the identification of >250 IBD risk loci, enabling a reclassification of IBD into three clinical subtypes, Ileal Crohn’s Disease (CD), Colonic CD, and Ulcerative Colitis (UC). They have demonstrated that African-American IBD patients carry African-derived disease loci not found in European-Americans, and identified several novel pathophysiological pathways which are potential targets for development of therapeutics. Despite these advances, complete remission rates remain at <50%, and disease management is costly and invasive. There is an urgent need for translation of the Consortium’s genetic discoveries to knowledge of pathophysiological mechanisms. The massive collection of genetic and clinical data and biological samples compiled by the Consortium, along with recent advances in technology for collection of single-cell-level molecular data and computational analytic methods have provided the opportunity for such translation. The Consortium will increase patient recruitment from non-European populations, study of understudied disease phenotypes, disease progression and response to treatment, and the role of uncommon genetic variants in disease, and continue its integrated multi-omics analyses. All of these activities are directed at achieving a deeper understanding of pathophysiological mechanisms.