# Gene Expression Networks for Human Cardiac Differentiation in Down Syndrome

> **NIH NIH R21** · UNIVERSITY OF CHICAGO · 2020 · $156,048

## Abstract

Project Summary
 The overall goal of this proposal is to contribute to the understanding of the
molecular basis for the elevated risk of Atrioventricular Septal Defects (AVSDs) in Down
syndrome (DS). AVSDs are a common serious form of Congenital Heart Disease
(CHD) and the most common form of CHD in people with DS. AVSD incidence in
people with DS is approximately 20%, representing 2000-fold increased AVSD risk
compared to the euploid population. This increased risk has not been explained at
either the genetic or developmental level.
 The specific goals of this proposal are to investigate the differentiation and gene
expression differences between Down syndrome and isogenic control cardiomyocyte
progenitors, differentiated from human induced Pluripotent Stem Cell (iPSC) lines. We
apply recent progress in AVSD pathophysiology to nominate a directed approach for
investigating the molecular basis of ASVD risk in DS.
 The deliverables of this proposal will be a set of candidate genes with potential
roles in DS AVSD risk. Combined with our deep knowledge of the molecular genetics of
AVSD causation in the non-DS population, this data will allow generation of specific and
testable hypotheses concerning DS AVSD causation. The proposed discovery are
essential for future efforts to identify and interrogate specific candidate genes and
pathways altered in DS and responsible for increased AVSD risk. The ultimate aim of
this work is improved understanding of the molecular mechanisms of AVSDs in DS, with
the potential to shed mechanistic light on AVSD causation.

## Key facts

- **NIH application ID:** 10057128
- **Project number:** 1R21HD100921-01A1
- **Recipient organization:** UNIVERSITY OF CHICAGO
- **Principal Investigator:** Ivan Paul Moskowitz
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $156,048
- **Award type:** 1
- **Project period:** 2020-09-01 → 2022-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10057128

## Citation

> US National Institutes of Health, RePORTER application 10057128, Gene Expression Networks for Human Cardiac Differentiation in Down Syndrome (1R21HD100921-01A1). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10057128. Licensed CC0.

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