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Developmental methylomics of autism spectrum disorder

Award Number: R01MH124981
ORGANIZATION: NATIONAL INSTITUTE OF MENTAL HEALTH
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 04/01/2021
PERIOD OF PERFORMANCE END DATE: 01/31/2026

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Developmental methylomics of autism spectrum disorder - Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects ~1% of the population. Progress has been made in elucidating the genetics of ASD through large-scale genome-wide association studies (GWAS) and whole-exome sequencing (WES) studies that have identified several loci associated with ASD. However, a substantial fraction of ASD status cannot be explained by genetic sequence variation. There are multiple reasons to expect that DNA methylation (DNAm) may account for part of this unexplained variation. First, part of the ASD-related genes identified via DNA sequence variation include genes involved in chromatin modification and DNAm. Second, ASD likely originates during prenatal development, a period of dynamically regulated changes in DNAm in the brain. As this remodeling may result in epimutations that can dysregulate brain function, disruption of the DNAm regulation in utero represents a plausible ASD risk mechanism. Third, ASD is associated with several neonatal and other environmental risk factors. Because DNAm can be modified by environmental factors, it may mediate the effect of these risk factors on ASD. The overall aims of this project is to enhance our understanding of DNAm in ASD etiology, and use DNAm marks at for early detection of individuals at risk for ASD. For this purpose we will generate methylome-wide data using samples from ASD cases age 18-25 years and matched controls from an existing Swedish case- control study called Population-based Autism Genetics and Environment Study. In addition, we will use stored neonatal blood samples to generate a second methylation profile for these same individuals at birth. Thus, we will have methylome-wide data from blood for two time-points from all participants, accompanied by longitudinal phenotype information spanning birth to current date obtained from the Swedish registers. We will use a sequencing-based approach to assay the DNAm status of nearly all 28 million common CpG sites in the human genome and will perform a battery of novel statistical analyses including methylome-wide association studies (MWAS) of whole blood and individual cell-types in blood; analyses integrating DNAm information with neonatal risk factors and already existing GWAS and WES data; and studies exploring the role of DNAm in the ASD sex-bias. Significant findings will be replicated in four existing and independent blood sample collections, and studied in the newly generated methylation/expression data from ASD brain samples. Finally, we propose to use neonatal DNAm markers to create multi-marker methylation risk scores (MRSs) for predicting ASD risk.


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: 2025 ( Subtotal = $585,546 )
2025	2025	VIRGINIA COMMONWEALTH UNIVERSITY	910 WEST FRANKLIN ST	RICHMOND	VA	23284	RICHMOND CITY	USA	Mental Health Research Grants	000	5	2/13/2025	NON-COMPETING CONTINUATION	$585,546
														Subtotal = $585,546

Issue Date FY: 2024 ( Subtotal = $734,202 )
2024	2024	VIRGINIA COMMONWEALTH UNIVERSITY	910 WEST FRANKLIN ST	RICHMOND	VA	23284	RICHMOND CITY	USA	Mental Health Research Grants	001	4	8/16/2024	NON-COMPETING CONTINUATION	$73,419
2024	2024	VIRGINIA COMMONWEALTH UNIVERSITY	910 WEST FRANKLIN ST	RICHMOND	VA	23284	RICHMOND CITY	USA	Mental Health Research Grants	000	4	1/19/2024	NON-COMPETING CONTINUATION	$660,783
														Subtotal = $734,202

Issue Date FY: 2023 ( Subtotal = $667,973 )
2023	2023	VIRGINIA COMMONWEALTH UNIVERSITY	910 WEST FRANKLIN ST	RICHMOND	VA	23284	RICHMOND CITY	USA	Mental Health Research Grants	000	3	1/20/2023	NON-COMPETING CONTINUATION	$667,973
														Subtotal = $667,973

Issue Date FY: 2022 ( Subtotal = $679,176 )
2022	2022	VIRGINIA COMMONWEALTH UNIVERSITY	912 W FRANKLIN ST	RICHMOND	VA	23284	RICHMOND CITY	USA	Mental Health Research Grants	001	2	6/21/2022	NON-COMPETING CONTINUATION	$67,920
2022	2022	VIRGINIA COMMONWEALTH UNIVERSITY	912 W FRANKLIN ST	RICHMOND	VA	23284	RICHMOND CITY	USA	Mental Health Research Grants	000	2	1/26/2022	NON-COMPETING CONTINUATION	$611,256
														Subtotal = $679,176

Issue Date FY: 2021 ( Subtotal = $764,339 )
2021	2021	VIRGINIA COMMONWEALTH UNIVERSITY	912 W FRANKLIN ST	RICHMOND	VA	23284	RICHMOND CITY	USA	Mental Health Research Grants	001	1	5/3/2021	NEW	$73,668
2021	2021	VIRGINIA COMMONWEALTH UNIVERSITY	912 W FRANKLIN ST	RICHMOND	VA	23284	RICHMOND CITY	USA	Mental Health Research Grants	000	1	3/23/2021	NEW	$690,671
														Subtotal = $764,339

Grand Total All Awards = $3,431,236

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Developmental methylomics of autism spectrum disorder

Award Number: R01MH124981

ORGANIZATION: NATIONAL INSTITUTE OF MENTAL HEALTH

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 04/01/2021

PERIOD OF PERFORMANCE END DATE: 01/31/2026

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