# COngenital Diarrhea and Enteropathy (PediCODE) Consortium and BioRepository

> **NIH NIH RC2** · UNIVERSITY OF CALIFORNIA LOS ANGELES · 2023 · $1,699,798

## Abstract

PROJECT SUMMARY/ABSTRACT:
The goals of this grant application are to develop the PediCODE Consortium and Biorepository and to
identify the monogenic causes of COngenital Diarrhea and Enteropathy (CODE). The CODE disorders are rare
monogenic disorders that are under-researched and associated with an enormous management costs and
adverse life-long outcomes. We will characterize their clinical and pathophysiological features of these
disorders and develop a 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
that have interest and experience in cell biology and genetic disorders that result in diarrhea.
Our goals will be accomplished with three aims. We will initially develop a prospective cohort and registry of
affected CODE children and follow their clinical course. We will also perform or gather data of whole exome
sequencing from the majority of these patients, and we will develop a CODE tissue histopathology atlas from
biopsy samples. The consortium will also collect cell samples (intestinal epithelium, blood and skin fibroblasts),
as well as serum and stool samples. We will investigate the enteroids generated from the biopsy samples,
and/or generate intestinal organoids from pluripotent stem cells, and these will be characterized and validated
by immunostaining and RNA sequencing. We will then utilize existing and develop novel technologies to
characterize and investigate the epithelial phenotypes of CODE disorders using polarized cells, patient-derived
enteroids and disease-specific zebrafish models. Finally, we will seek to characterize functional alterations in a
minimum of 4 novel disorders from our cohort of CODE patients. This in-depth analysis will include functional
characterization using intestinal organoids where we will assess barrier formation, active ion and water
transport, and vesicular trafficking/protein sorting. We anticipate that the PediCODE Consortium and
Biorepository will be a rich resource for patients and their families, clinicians and bench researchers. We
anticipate that these efforts will expand our understanding of CODE disorders and identify novel approaches
for improving clinical symptoms of affected children.

## Key facts

- **NIH application ID:** 10683735
- **Project number:** 5RC2DK118640-05
- **Recipient organization:** UNIVERSITY OF CALIFORNIA LOS ANGELES
- **Principal Investigator:** James Richard Goldenring
- **Activity code:** RC2 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2023
- **Award amount:** $1,699,798
- **Award type:** 5
- **Project period:** 2019-09-15 → 2024-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10683735

## Citation

> US National Institutes of Health, RePORTER application 10683735, COngenital Diarrhea and Enteropathy (PediCODE) Consortium and BioRepository (5RC2DK118640-05). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10683735. Licensed CC0.

---

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