# COngenital Diarrhea and Enteropathy (PediCODE) Consortium and BioRepository

> **NIH NIH RC2** · UNIVERSITY OF CALIFORNIA LOS ANGELES · 2024 · $2,000,000

## Abstract

PROJECT SUMMARY/ABSTRACT:
This grant application aims to develop the PediCODE Consortium and Biorepository and identify the
monogenic causes of Congenital Diarrhea and Enteropathy (CoDE). The CoDE disorders are rare monogenic
disorders that are under-researched and associated with enormous management costs and adverse life-long
outcomes. We will characterize these disorders' clinical and pathophysiological features and expand our
clinical database and biorepository of disease-specific cells, tissues, and other primary patient materials. We
anticipate that through these efforts, we will identify novel genes implicated in CoDE while we establish a
unique resource enabling mechanistic studies on both known and unknown causal CoDE genes. To achieve
these goals, we have assembled a multidisciplinary group of Physician-Scientists with an interest and
experience in cell biology and genetic disorders resulting in diarrhea.
The proposed research project aims to expand the clinical and sample repository that we have developed for
studying CoDE disorders. Our initial aim focuses on enrolling CoDE patients into a multi-center cohort and
capturing detailed clinical, genetic, and pathological data. Additionally, patient-derived samples will be
collected to develop protein-interactome and single-cell transcriptomic data. Computational and image data
tools will be developed to analyze these biopsies' enteroids and uncover features associated with each CoDE
disorder. We will then address clinical cases where a causative variant in a known CoDE gene is not identified.
A systematic pipeline, including whole exome and RNA sequencing, will be employed to identify and
functionally validate unknown cases. Novel intestinal epithelial assays and patient-derived enteroids will
provide a cellular phenotype of these disorders and be selectively supported with animal models. Finally, we
will explore various options to examine therapeutic discovery for known CoDE disorders. We have developed
quantitative assays of epithelial function in patient-derived enteroids, and animal models have been developed
and validated. These assays will be adapted and extended for high-throughput applications in therapy
development. Targeted screening for potential therapeutic modalities will be conducted, and pre-clinical
validation will be performed using CoDE mouse and zebrafish models. The aim is to explore novel treatment
principles in multiple models for clinical translation. The research project aims to expand the understanding of
CoDE disorders, develop new tools and resources, identify and functionally study novel cases, and enable
therapeutic discovery of known CoDE disorders. We anticipate that the PediCoDE Consortium and
Biorepository will be a rich resource for patients, their families, clinicians, and scientific researchers. We
anticipate that these efforts will expand our understanding of CoDE disorders and identify novel approaches for
improving the clinical symptoms of affected c...

## Key facts

- **NIH application ID:** 10978459
- **Project number:** 2RC2DK118640-06
- **Recipient organization:** UNIVERSITY OF CALIFORNIA LOS ANGELES
- **Principal Investigator:** James Richard Goldenring
- **Activity code:** RC2 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $2,000,000
- **Award type:** 2
- **Project period:** 2019-09-15 → 2029-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10978459

## Citation

> US National Institutes of Health, RePORTER application 10978459, COngenital Diarrhea and Enteropathy (PediCODE) Consortium and BioRepository (2RC2DK118640-06). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10978459. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*