# Investigating the cellular and molecular neuropathology of the cerebellum in autism

> **NIH NIH R21** · SEATTLE CHILDREN'S HOSPITAL · 2022 · $217,015

## Abstract

PROJECT SUMMARY/ABSTRACT
Autism spectrum disorder (ASD) is a common, heterogeneous diagnosis with behavioral challenges that
develop early in life. The cerebellum is one part of the brain that has an important role in contributing to ASD
pathogenesis, though details regarding the biological mechanisms and the emergence of atypical development
is not understood. To address this significant gap in knowledge, we will examine ~100,000 individual cells to
characterize the molecular and cellular phenotypes present in the cerebellum of individuals diagnosed with
ASD. In Aim 1, we will use single-nucleus RNA-sequencing to identify all cell types in the postmortem
cerebellum and laser capture microdissection to specifically isolate Purkinje cells from the cerebellar cortex to
examine this cell type in detail. In Aim 2, we will integrate existing bulk and single-cell transcriptional datasets
to infer the temporal specificity of cellular phenotypes present in the cerebellum of individuals diagnosed with
ASD. By integrating new and existing data, this study will provide critical information regarding the molecular
and cellular diversity of the cerebellum in ASD that can be used to elucidate the molecular mechanisms
underlying ASD neuropathology.

## Key facts

- **NIH application ID:** 10417052
- **Project number:** 5R21MH126244-02
- **Recipient organization:** SEATTLE CHILDREN'S HOSPITAL
- **Principal Investigator:** Kimberly Anne Aldinger
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $217,015
- **Award type:** 5
- **Project period:** 2021-06-03 → 2024-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10417052

## Citation

> US National Institutes of Health, RePORTER application 10417052, Investigating the cellular and molecular neuropathology of the cerebellum in autism (5R21MH126244-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10417052. Licensed CC0.

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