Molecular and Cellular Basis of Neurodevelopmental Disorders

NIH RePORTER · NIH · R01 · $654,978 · view on reporter.nih.gov ↗

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
10125197
Project number
5R01MH113948-02
Recipient
UNIVERSITY OF ALABAMA AT BIRMINGHAM
Principal Investigator
Craig M Powell
Activity code
R01
Funding institute
NIH
Fiscal year
2021
Award amount
$654,978
Award type
5
Project period
2020-03-10 → 2025-01-31