# High Resolution Analysis of FOXP1 in the Developing Human Cerebellum

> **NIH NIH R03** · SEATTLE CHILDREN'S HOSPITAL · 2024 · $196,900

## Abstract

PROJECT SUMMARY
Rare diseases are a leading cause of morbidity and mortality in children and adults that frequently have a
genetic etiology, but specific treatments are only beginning to emerge. Among more than 10,000 individual rare
diseases, less than 5% have a specific treatment, in part because the affected protein is understudied. FOXP1
is an understudied forkhead box transcription factor that urgently needs investigation to reveal its impact to
human health as a therapeutic target. We have identified prominent cerebellar hypoplasia in patients with
heterozygous variants in the FOXP1 gene, but the cellular and molecular mechanisms driving this abnormality
have not been studied. In Aim 1, we will characterize FOXP1 cell type and spatiotemporal expression and
visualize microvascular architecture in human cerebellar development using high resolution optical imaging. In
Aim 2, we will construct FOXP1 cell-type-specific gene regulatory networks using single cell genomic assays.
The results from these experiments will provide foundational data for investigating pathological development of
FOXP1 syndrome.

## Key facts

- **NIH application ID:** 10888537
- **Project number:** 1R03NS137458-01
- **Recipient organization:** SEATTLE CHILDREN'S HOSPITAL
- **Principal Investigator:** Kimberly Anne Aldinger
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $196,900
- **Award type:** 1
- **Project period:** 2024-04-15 → 2025-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10888537

## Citation

> US National Institutes of Health, RePORTER application 10888537, High Resolution Analysis of FOXP1 in the Developing Human Cerebellum (1R03NS137458-01). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10888537. Licensed CC0.

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