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Rare Mutations and Autism Spectrum Disorders

Award Number: R01MH101221
ORGANIZATION: NATIONAL INSTITUTE OF MENTAL HEALTH
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 08/01/2013
PERIOD OF PERFORMANCE END DATE: 10/31/2026

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Rare Mutations and Autism Spectrum Disorders - ABSTRACT Sporadic loss-of-function mutations, recurrent missense mutations, and copy number variants (CNVs) contribute significantly to the etiology of autism, but much of the genetic architecture has not yet been understood. Most known pathogenic CNVs are large and the significance of many of these gene mutations is still not known. The goal of this proposal is to significantly increase the yield of high-impact autism mutations by focusing on the discovery of understudied classes of rare variants from whole-genome (n = 35,000 samples) and whole-exome (n = 150,000 samples) sequence data being generated from autism families. This proposal focuses on ultra- rare, gene-disruptive mutations and leverages the additional sensitivity afforded by whole-genome shotgun sequencing data, novel CNV discovery methods, and transmission of ultra-rare inherited mutations to increase yield of pathogenic mutations. Our target will include the discovery and validation of smaller and more complex structural variants (including CNVs) and private gene-disruptive mutations not enriched in de novo mutation but preferentially transmitted to autism children. We will assess the utility of high-fidelity long-read sequencing to discover more complex forms of structural variation that have been missed by standard short-read sequencing by investigating 100 unsolved cases with a higher likelihood of genetic risk. In addition, we propose to select 10 genes with evidence of de novo mutation for further clinical evaluation, phenotypic variability, and comprehensive genetic characterization. This will include five genes where only de novo mutations have been observed compared to five genes where both de novo and inherited mutations have been documented in order to understand carrier phenotypes. This proposal specifically focuses on the application of novel genomic methods, recurrent mutations, and inheritance patterns to discover pathogenic variants in order to develop a more sophisticated model to explain the genetic architecture of autism. As part of this effort, we will quantify and compare the risk of different classes of mutation for autism and investigate transmission disequilibrium differences. The end product of this analysis will be the identification and characterization of new classes of highly penetrant genic mutations that contribute significantly to etiology of autism, providing targets for clinical diagnostics and future therapeutics.


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 = $0 )
2026	2025	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	000	13	12/3/2025	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2025 ( Subtotal = $757,658 )
2025	2025	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	000	13	12/6/2024	NON-COMPETING CONTINUATION	$644,010
2025	2025	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	001	13	9/23/2025	NON-COMPETING CONTINUATION	$113,648
														Subtotal = $757,658

Issue Date FY: 2024 ( Subtotal = $757,658 )
2024	2024	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	001	12	6/28/2024	NON-COMPETING CONTINUATION	$75,765
2024	2024	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	000	12	10/24/2023	NON-COMPETING CONTINUATION	$681,893
														Subtotal = $757,658

Issue Date FY: 2023 ( Subtotal = $670,915 )
2023	2023	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	000	11	11/15/2022	NON-COMPETING CONTINUATION	$613,704
2023	2023	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	002	11	1/23/2023	NON-COMPETING CONTINUATION	$68,189
2023	2020	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	001	8	1/17/2023	NON-COMPETING CONTINUATION	-$10,978
														Subtotal = $670,915

Issue Date FY: 2022 ( Subtotal = $699,649 )
2022	2022	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	000	10	11/19/2021	NON-COMPETING CONTINUATION	$629,685
2022	2022	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	001	10	5/12/2022	NON-COMPETING CONTINUATION	$69,964
														Subtotal = $699,649

Issue Date FY: 2021 ( Subtotal = $704,178 )
2021	2021	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	000	9	12/22/2020	COMPETING CONTINUATION	$633,759
2021	2021	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	003	9	7/27/2021	COMPETING CONTINUATION	$295,611
2021	2021	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	001	9	5/7/2021	COMPETING CONTINUATION	$70,419
2021	2020	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	002	8	7/27/2021	NON-COMPETING CONTINUATION	-$295,611
														Subtotal = $704,178

Issue Date FY: 2020 ( Subtotal = $732,318 )
2020	2020	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	000	8	1/30/2020	NON-COMPETING CONTINUATION	$732,318
														Subtotal = $732,318

Issue Date FY: 2019 ( Subtotal = $732,318 )
2019	2019	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	000	7	2/6/2019	NON-COMPETING CONTINUATION	$732,318
														Subtotal = $732,318

Issue Date FY: 2018 ( Subtotal = $734,245 )
2018	2018	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	000	6	1/25/2018	NON-COMPETING CONTINUATION	$660,821
2018	2018	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	001	6	7/3/2018	NON-COMPETING CONTINUATION	$73,424
														Subtotal = $734,245

Issue Date FY: 2017 ( Subtotal = $703,304 )
2017	2017	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	000	5	3/24/2017	COMPETING CONTINUATION	$703,304
2017	2017	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	001	5	3/29/2017	COMPETING CONTINUATION	$0
2017	2017	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	003	5	6/15/2017	COMPETING CONTINUATION	$10,978
2017	2016	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Mental Health Research Grants	002	4	6/15/2017	EXTENSION WITH OR WITHOUT FUNDS	-$10,978
														Subtotal = $703,304

Issue Date FY: 2016 ( Subtotal = $645,467 )
2016	2016	UNIVERSITY OF WASHINGTON	3917 UNIVERSITY WAY NE	SEATTLE	WA	98105	KING	USA	Mental Health Research Grants	000	4	3/22/2016	EXTENSION WITH OR WITHOUT FUNDS	$645,467
														Subtotal = $645,467

Issue Date FY: 2015 ( Subtotal = $647,900 )
2015	2015	UNIVERSITY OF WASHINGTON	3917 UNIVERSITY WAY NE	SEATTLE	WA	98105	KING	USA	Mental Health Research Grants	000	3	6/23/2015	NON-COMPETING CONTINUATION	$647,900
														Subtotal = $647,900

Issue Date FY: 2014 ( Subtotal = $647,900 )
2014	2014	UNIVERSITY OF WASHINGTON	3917 UNIVERSITY WAY NE	SEATTLE	WA	98105	KING	USA	Mental Health Research Grants	000	2	7/15/2014	NON-COMPETING CONTINUATION	$647,900
														Subtotal = $647,900

Issue Date FY: 2013 ( Subtotal = $713,231 )
2013	2013	UNIVERSITY OF WASHINGTON	3917 UNIVERSITY WAY NE	SEATTLE	WA	98105	KING	USA	Mental Health Research Grants	000	1	7/29/2013	NEW	$713,231
														Subtotal = $713,231

Grand Total All Awards = $9,146,741

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Rare Mutations and Autism Spectrum Disorders

Award Number: R01MH101221

ORGANIZATION: NATIONAL INSTITUTE OF MENTAL HEALTH

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 08/01/2013

PERIOD OF PERFORMANCE END DATE: 10/31/2026

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