# Down Syndrome Early Childhood Omics, Deep Phenotyping, and Epidemiology in Texas: DECODE IT Cohort

> **NIH NIH U01** · BAYLOR COLLEGE OF MEDICINE · 2024 · $766,722

## Abstract

ABSTRACT/SUMMARY
Down syndrome (DS) is one of the most common genetic syndromes, with a birth prevalence of 1 in 700 that
has been increasing in recent years. Children with DS encounter many adverse health outcomes including 1)
structural birth defects – which are associated with significant morbidity and mortality; 2) abnormal
hematopoiesis – which infers a 20-fold increased risk of acute leukemia; and 3) neurodevelopmental
disorders – which significantly impact functional independence and quality of life. However, there are important
gaps in our understanding: 1) inter-individual variability exists among children with DS in relation to these
phenotypes that cannot be fully explained; 2) the natural history of these phenotypes among children with DS
has not been comprehensively evaluated, limiting health supervision guidelines and targets for intervention; and
3) children with DS, particularly those from underrepresented minorities, have often been excluded from
participation in research that could improve their outcomes. In this application, we seek to address these gaps
in knowledge. Specifically, in response to RFA-OD-24-003 (Down Syndrome Cohort Research Sites for the
INCLUDE Project), we propose to leverage the Texas Birth Defects Registry (TBDR) – one of the world’s largest
and most diverse population-based active birth defects surveillance systems – to develop the Down syndrome
Early Childhood Omics, Deep phenotyping, and Epidemiology In Texas: DECODE IT Cohort. As part of
DECODE IT, we will recruit an ethnically and geographically diverse birth cohort of children with DS with the
objectives of 1) conducting deep phenotyping and 2) collecting biospecimens for omics assessments. Our
research team is uniquely poised to develop this population-based cohort of children with DS. We bring expertise
in DS research and recruitment (Lupo and Rasmussen), DS-related birth defects (Agopian), DS-associated
hematopoiesis (Rabin), and neurodevelopment in children with DS (Jacola). Furthermore, we have an extensive
record of collaborations. Therefore, we propose the following aims: 1) recruit children with DS to the DECODE
IT Cohort; 2) Conduct deep phenotyping on children with DS enrolled in DECODE IT – with a particular emphasis
on structural birth defects, hematopoietic development, and neurodevelopment; 3) Prospectively collect
biospecimens on children with DS enrolled in DECODE IT for biomarker and omics studies. IMPACT: Through
DECODE IT we will establish a large population-based cohort (N=1,000 children with DS) that will provide the
necessary foundation for propelling our understanding, prediction, and prevention of associated adverse health
outcomes in children with DS.

## Key facts

- **NIH application ID:** 10999683
- **Project number:** 1U01HD116485-01
- **Recipient organization:** BAYLOR COLLEGE OF MEDICINE
- **Principal Investigator:** A.J. Agopian
- **Activity code:** U01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $766,722
- **Award type:** 1
- **Project period:** 2024-09-17 → 2025-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10999683

## Citation

> US National Institutes of Health, RePORTER application 10999683, Down Syndrome Early Childhood Omics, Deep Phenotyping, and Epidemiology in Texas: DECODE IT Cohort (1U01HD116485-01). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10999683. Licensed CC0.

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