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Functional Studies of NDD Gene(s)

Award Number: R01MH135954
ORGANIZATION: NATIONAL INSTITUTE OF MENTAL HEALTH
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 01/13/2025
PERIOD OF PERFORMANCE END DATE: 10/31/2029

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Functional Studies of NDD Gene(s) - 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 rare neurodevelopmental disorders including autism spectrum disorders, intellectual disability, and others. This proposal will characterize a genetic mouse model, already generated and breeding in our laboratory, to delineate its function in the brain for the first time. Specifically, the proposal will be on a gene implicated in a well-defined neurodevelopmental disorder, as well as in autism and schizophrenia. Because this gene encodes a protein that is known to alter gene expression and chromatin modifications in non-neuronal cells, we will obtain multiome single nucleus RNA-sequencing and snATAC-seq data and analyze and correlate these two data sets while examining in parallel chromatin state. These data will span 3 critical time points during development and two key brain regions. We will also examine morphological changes in brain subregions using structural MRI as well as the morphology of neurons in the brain of these mice. A broad behavioral profile including learning/memory, social domain, and repetitive domains will be obtained to provide outcome measures for future studies. Finally, we will examine synaptic and neuronal function in two select brain regions using slice electrophysiology approaches. These unbiased, experiments will identify novel downstream targets in mammalian brain, elucidate behavioral outcome measures for future studies, and generate new hypotheses anticipated to lead to future potential therapeutic strategies.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $659,549 )
2026	2026	UNIVERSITY OF ALABAMA AT BIRMINGHAM	701 S 20TH STREET	BIRMINGHAM	AL	35294	JEFFERSON	USA	Mental Health Research Grants	000	2	12/4/2025	NON-COMPETING CONTINUATION	$659,549
														Subtotal = $659,549

Issue Date FY: 2025 ( Subtotal = $742,484 )
2025	2025	UNIVERSITY OF ALABAMA AT BIRMINGHAM	701 S 20TH STREET	BIRMINGHAM	AL	35294	JEFFERSON	USA	Mental Health Research Grants	000	1	1/13/2025	NEW	$742,484
														Subtotal = $742,484

Grand Total All Awards = $1,402,033

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Functional Studies of NDD Gene(s)

Award Number: R01MH135954

ORGANIZATION: NATIONAL INSTITUTE OF MENTAL HEALTH

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 01/13/2025

PERIOD OF PERFORMANCE END DATE: 10/31/2029

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