# Mount Sinai School of Medicine Inflammatory Bowel Disease Genetics Research Cente

> **NIH NIH U01** · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · 2020 · $496,391

## Abstract

Project Summary
This application from the Mount Sinai Health System proposes participation as a genetic
research center (GRC) within the NIDDK Inflammatory Bowel Disease Genetics Consortium
(IBDGC). IBD genetic discovery has disproportionately focused on European ancestry cohorts,
despite high and rising prevalence in all US populations. In Aim 1, participation as a multi-
disciplinary GRC in Consortium-wide projects is proposed. Expanding sequence and genotype
data on non-European ancestry cohorts is proposed. New analytic methodologies have been
developed whereby more ancestrally complex populations, such as Hispanic cohorts, can not
only be meaningfully analyzed, but may confer substantial benefits in unlocking the overall
genetic architecture of polygenic diseases, such as IBD. The application of novel clinical
research tools involving efficient electronic health record and development of more objective
endpoints can deepen longitudinal phenotype data for already recruited patients. Given the
continued centrality of anti-TNF therapies in an era of multiple new therapies, studies to
examine anti-TNF non-response (ileal resection, surgical specimens) and response (new anti-
TNF initiation, endoscopically-based) are proposed. Specifically, in Aim 2, definition of intestinal
single-cell expression features with anti-TNF non-response and response is proposed using
mass cytometry protein analyses (Cytof), and single cell mRNA sequencing. Single cell
analyses in IBD tissues shows enormous promise in systematically explicating the precise
contributions in the most relevant context of the over 200 genome-wide significant IBD
associations. Early single cell analyses points to a highly complex innate immune cell
architecture, which may be distinct between various high effect IBD-associated risk alleles of
innate immunity. Scaling key results through correlative techniques feasible in larger cohorts,
such as using paraffin-embedded tissues and peripheral blood samples is proposed. The
advent of multiple new therapies makes this a particularly propitious time to protocolize clinical
practice, both to improve patient care, as well as to mine biosamples for IBD research. The
insight that is gained through these studies can prioritize genes, cells and pathways from which
to scale key results and protocols across the NIDDK IBDGC. The long-term goal of these
studies is to efficiently develop protocols to most effectively treat IBD patients, catalyzing the
advent of Precision IBD.

## Key facts

- **NIH application ID:** 10002212
- **Project number:** 5U01DK062422-21
- **Recipient organization:** ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
- **Principal Investigator:** JUDY H. CHO
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $496,391
- **Award type:** 5
- **Project period:** 2002-09-30 → 2022-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10002212

## Citation

> US National Institutes of Health, RePORTER application 10002212, Mount Sinai School of Medicine Inflammatory Bowel Disease Genetics Research Cente (5U01DK062422-21). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10002212. Licensed CC0.

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