# Celiac disease signatures in Down syndrome (KL2 Admin Suppl)

> **NIH NIH KL2** · UNIVERSITY OF COLORADO DENVER · 2020 · $140,430

## Abstract

Project Summary:
Individuals with Down syndrome (DS), are paradoxically predisposed to certain autoimmune conditions including
celiac disease, but spared from other conditions such as solid malignancies. The mechanism for the higher
prevalence of celiac disease in DS remains unknown. Undiagnosed and untreated celiac disease impairs
nutrition and can have lifelong impacts on bone health, fertility, cancer risk, growth, mental health, and mortality.
Signs and symptoms of celiac disease may be masked in the DS population and adherence to the only current
treatment, a strict gluten-free diet, is difficult. This proposal leverages the INCLUDE-funded Human Trisome
Project (HTP), a large cohort study of individuals with DS using pan-omics approaches, to study the molecular
signatures of celiac disease in DS. The long term goal is to utilize pan-omics data to gain a better fundamental
understanding of the pathogenesis and potential biomarkers of celiac disease in those with and without DS. The
central hypothesis is that there is a novel pan-omics signature for celiac disease in those with DS. This
hypothesis will be tested with three specific research aims: 1) Compare the molecular signature of those with
DS enrolled in the HTP with and without celiac disease 2) Collect proteomics and metabolomics from children
without DS and with and without celiac disease to determine if the same molecular signatures of celiac disease
are conserved in those without DS 3) Explore the impact of genetic risk alleles on celiac disease in DS. This
proposal also supports career development aims geared to building the necessary skills for independent
research funding in celiac disease and DS personalized medicine. This plan will prepare the trainee with the
following four specific career development aims: 1) Develop skills needed to analyze multi-omics data 2) Learn
to manage a research team 3) Learn applications of biomarker development 4) Prepare for career independence.
The approach is innovative because it uses innovative data analysis techniques for multi-omics data to gain a
deeper understanding of celiac disease in DS. The proposed research is significant because understanding the
molecular signatures of celiac disease may enable the future development of improved diagnostic, therapeutic,
and preventative strategies in those with DS and for the general population.

## Key facts

- **NIH application ID:** 10117961
- **Project number:** 3KL2TR002534-03S1
- **Recipient organization:** UNIVERSITY OF COLORADO DENVER
- **Principal Investigator:** ELLEN L BURNHAM
- **Activity code:** KL2 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $140,430
- **Award type:** 3
- **Project period:** 2018-05-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10117961

## Citation

> US National Institutes of Health, RePORTER application 10117961, Celiac disease signatures in Down syndrome (KL2 Admin Suppl) (3KL2TR002534-03S1). Retrieved via AI Analytics 2026-06-08 from https://api.ai-analytics.org/grant/nih/10117961. Licensed CC0.

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