# The Microbiome, Metabolome, and Genome in Multiplex IBD Family Clusters

> **NIH NIH K23** · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · 2024 · $165,861

## Abstract

This project will seek to define the relative risk contributions of microbial and genetic factors to the
development of inflammatory bowel disease (IBD) within a cohort of high-risk multiplex (3 first-degree relatives
affected) IBD families. Candidate: The primary objective of this application is to support Dr. Elizabeth
Spencer’s career development into an independent, patient-oriented investigator in the field of prevention and
personalized medicine for IBD patients. Dr. Spencer’s career goal is to become an independent researcher
and leader in the application of risk stratification and prevention for IBD. Dr. Spencer’s proposed training
activities are in five areas: 1) microbiomics, 2) metabolomics, 3) computational genomics and metagenomics,
4) longitudinal cohort building, and 5) leadership. To achieve this, she has assembled a mentoring team led by
Dr. Marla Dubinsky, Co-Director of the IBD Clinical Center at Mount Sinai and Chief of the Division of Pediatric
Gastroenterology, an expert in IBD risk stratification, Dr. Judy Cho, Ward-Coleman Professor, Vice-Chair of
Genetics & Genomics & Gastroenterology, and Director of the Charles Bronfman Institute for Personalized
Medicine (IPM) at the Icahn School of Medicine at Mount Sinai (ISMMS), an expert in the genetics of IBD, and
Dr. Jeremiah Faith, Associate Professor of Genetics and Genomic Sciences and Clinical Immunology and
Director of the Microbiome Translational Center, an expert in microbiomic analysis. Environment: The ISMMS
has a strong tradition of outstanding research and is one of the top 20 medical schools in NIH funding. The
Mount Sinai Division of Pediatric Gastroenterology is an international leader in IBD research and clinical care.
Research: IBD is a heterogenous set of chronic inflammatory disorders that arise from the complex interplay
of genetic, environmental and microbial factors, and immune responses. These complicated interactions arise
before the identification of overt disease, making it difficult to tease out the causative factors behind disease
inception given the need for a pre-clinical, high-risk cohort. The Multiplex Families Research Program at
ISMMS provides a unique cohort of affected and unaffected members of multiplex families with IBD to examine
the relative contribution of these factors. Dr. Spencer’s preliminary observations in this cohort have shown that
siblings with IBD tend to cluster together in birth order, likely due to some environmental sharing, which could
be attributed to microbial changes. We would like to explore this further by characterizing the microbial and
genetic contributions to familial IBD to improve stratification of those at high-risk for developing both pre-clinical
and overt IBD. Therefore, our specific aims are (1) to define the features of microbial and metabolomic profiles
in sibling clusters of IBD and their association with genetic risk and (2) to develop an IBD risk score
incorporating genetic, microbial, and metabolomic fac...

## Key facts

- **NIH application ID:** 10852970
- **Project number:** 5K23DK125760-03
- **Recipient organization:** ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
- **Principal Investigator:** Elizabeth Spencer
- **Activity code:** K23 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $165,861
- **Award type:** 5
- **Project period:** 2022-08-01 → 2027-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10852970

## Citation

> US National Institutes of Health, RePORTER application 10852970, The Microbiome, Metabolome, and Genome in Multiplex IBD Family Clusters (5K23DK125760-03). Retrieved via AI Analytics 2026-06-11 from https://api.ai-analytics.org/grant/nih/10852970. Licensed CC0.

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