# Determining the neurodevelopmental cell type specific regulatory networks impacted in Down syndrome

> **NIH NIH R03** · SEATTLE CHILDREN'S HOSPITAL · 2021 · $366,125

## Abstract

PROJECT SUMMARY/ABSTRACT
Down syndrome is the most prevalent genetic condition in humans and a major cause of intellectual
disability. Although the severity and extent of phenotypes present in Down syndrome partially result from
an extra copy of chromosome 21, details regarding the biological mechanisms and the emergence of atypical
development is not understood. To address this significant gap in knowledge, we previously created a
‘Developmental Cell Atlas of Down Syndrome’ by using single-cell RNA-sequencing to profile the
transcriptomes of over 700,000 cells derived from multiple tissues. This proposal represents our ongoing
efforts to characterize the molecular and cellular identity of cellular phenotypes present in the developing brain
in Down syndrome. In Aim 1, we will map the Down syndrome cells onto a reference framework of the
developing human brain by pooling existing single-cell RNA-sequencing data. In Aim 2, we will use our
established human brain functional genomics pipeline to infer cell-type-specific gene regulatory networks
altered in Down syndrome. Leveraging existing data, this study will provide critical information about the
emergence and regulation of early brain development in Down syndrome that can be used to elucidate the
molecular mechanisms underlying early neuropathology and to benchmark model systems for disease relevant
neuronal phenotypes.

## Key facts

- **NIH application ID:** 10304101
- **Project number:** 1R03NS123969-01
- **Recipient organization:** SEATTLE CHILDREN'S HOSPITAL
- **Principal Investigator:** Kimberly Anne Aldinger
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $366,125
- **Award type:** 1
- **Project period:** 2021-09-01 → 2023-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10304101

## Citation

> US National Institutes of Health, RePORTER application 10304101, Determining the neurodevelopmental cell type specific regulatory networks impacted in Down syndrome (1R03NS123969-01). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10304101. Licensed CC0.

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