# Molecular and Cellular Basis of Neurodevelopmental Disorders

> **NIH NIH R01** · UNIVERSITY OF ALABAMA AT BIRMINGHAM · 2022 · $654,978

## Abstract

Project Summary/Abstract
Neurodevelopmental disorders are common, debilitating disorders including autism, intellectual disability, and
perhaps even schizophrenia. Recent genetic findings have identified mutations in multiple genes in various
cellular pathways as genetic causes of neurodevelopmental disorders including autism spectrum disorders,
intellectual disability, and others. This proposal will characterize novel and innovative genetic mouse models
to delineate the function of these genes in the brain. Specifically, the proposal will focus on two genes
implicated in either 16p11.2 deletion or autism, both of which are predicted to be involved in overlapping intra-
neuronal signaling pathways and regulation of neuronal and synaptic function/development based on
preliminary findings. In addition to identifying the neuronal function of these genes in the brain, these studies
will identify potential therapeutic strategies for treatment of genetic forms of autism and intellectual disability
and possibly other neurodevelopmental disorders. Progress to date is substantial in that two novel mutant
mouse models relevant for neurodevelopmental disorders have been established and preliminary
characterization of synaptic function, neuronal development, neuronal biochemistry, and neuronal morphology
among other aspects of brain function has begun. Unbiased proteomic/transcriptomic approaches to identifying
additional, novel downstream targets of these gene products in mammalian brain will generate new
hypotheses anticipated to lead to additional potential therapeutic strategies.

## Key facts

- **NIH application ID:** 10347351
- **Project number:** 5R01MH113948-03
- **Recipient organization:** UNIVERSITY OF ALABAMA AT BIRMINGHAM
- **Principal Investigator:** Craig M Powell
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $654,978
- **Award type:** 5
- **Project period:** 2020-03-10 → 2025-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10347351

## Citation

> US National Institutes of Health, RePORTER application 10347351, Molecular and Cellular Basis of Neurodevelopmental Disorders (5R01MH113948-03). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10347351. Licensed CC0.

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