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Proteogenetics of Autism Spectrum Disorders

Award Number: R01MH100175
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: 06/30/2026

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Proteogenetics of Autism Spectrum Disorders - PROJECT SUMMARY/ ABSTRACT The goal of the proposed research is to use proteomics on samples from patient-derived cells with defined disease genotypes to identify the disrupted molecular pathways that underpin phenotypes of autism spectrum disorder (ASD). Family history and twin studies suggest that, in at least some cases, these disorders share genetic roots, but the degree to which environmental and genetic factors account for individual differences within the spectrum is currently unknown. The possibility that there is a genetic antecedent to the onset of ASD stimulated GWAS studies, but these studies were only able to identify genetic risk factors and not specific causative genes. To gain an understanding of the underlying molecular mechanisms associated with ASD, we will use human induced pluripotent stem cells (hiPSC) from patients with diseases on the autism spectrum. We have been reprogrammed fibroblasts from these patients and differentiated them into cells to create organoids, thus allowing the proteomic study in human diseases that were previously unobtainable (e.g. brain diseases). In this study, we will use large-scale proteomics combined with single cell proteomics to identify protein changes in individual cells of two genotypes on the autism spectrum. Patients suffering from the monogenetic disease Rett Syndrome (RTT) exhibit clinical phenotypes that mirror elements of ASD. We have fibroblasts that contain the different mutations in the gene MECP2 that cause RTT. We also have cells that contain the copy number variant CNV 16p11.2, a genetic variant on the autism spectrum. The molecular changes underpinning the development of ASD are poorly understood, but patient-derived cerebral organoids recapitulate molecular and morphological changes by gene dosage changes from CNV 16p11.2. We propose to use powerful mass spectrometry multiplexing technologies (Tandem Mass Tags – TMT) to measure commonalities and differences in proteome and phosphoproteome encoded by these genotypes. In addition, electrophysiology measurements will be combined with single cell proteomics to measure protein changes in neurons with electrophysiology disrupted by these genetic changes.


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 = $683,101 )
2025	2025	SCRIPPS RESEARCH INSTITUTE	10550 N TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	000	12	6/26/2025	NON-COMPETING CONTINUATION	$683,101
														Subtotal = $683,101

Issue Date FY: 2024 ( Subtotal = $684,218 )
2024	2024	SCRIPPS RESEARCH INSTITUTE	10550 N TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	000	11	7/29/2024	NON-COMPETING CONTINUATION	$684,218
														Subtotal = $684,218

Issue Date FY: 2023 ( Subtotal = $610,597 )
2023	2023	SCRIPPS RESEARCH INSTITUTE, THE	10550 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	000	10	7/21/2023	NON-COMPETING CONTINUATION	$610,597
														Subtotal = $610,597

Issue Date FY: 2022 ( Subtotal = $637,920 )
2022	2022	SCRIPPS RESEARCH INSTITUTE, THE	10550 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	001	9	7/9/2022	NON-COMPETING CONTINUATION	$637,920
2022	2020	SCRIPPS RESEARCH INSTITUTE, THE	10550 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	000	7	4/18/2022	NON-COMPETING CONTINUATION	$0
														Subtotal = $637,920

Issue Date FY: 2021 ( Subtotal = $672,469 )
2021	2021	SCRIPPS RESEARCH INSTITUTE, THE	10550 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	000	8	9/10/2021	COMPETING CONTINUATION	$672,469
														Subtotal = $672,469

Issue Date FY: 2020 ( Subtotal = $608,199 )
2020	2020	SCRIPPS RESEARCH INSTITUTE, THE	10550 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	000	7	6/9/2020	NON-COMPETING CONTINUATION	$608,199
														Subtotal = $608,199

Issue Date FY: 2019 ( Subtotal = $608,199 )
2019	2019	SCRIPPS RESEARCH INSTITUTE, THE	10550 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	000	6	3/5/2019	NON-COMPETING CONTINUATION	$608,199
														Subtotal = $608,199

Issue Date FY: 2018 ( Subtotal = $608,199 )
2018	2018	SCRIPPS RESEARCH INSTITUTE, THE	10550 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	001	5	6/15/2018	NON-COMPETING CONTINUATION	$60,820
2018	2018	SCRIPPS RESEARCH INSTITUTE, THE	10550 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	000	5	3/12/2018	NON-COMPETING CONTINUATION	$547,379
														Subtotal = $608,199

Issue Date FY: 2017 ( Subtotal = $608,199 )
2017	2017	SCRIPPS RESEARCH INSTITUTE, THE	10550 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	001	4	8/2/2017	NON-COMPETING CONTINUATION	$60,820
2017	2017	SCRIPPS RESEARCH INSTITUTE, THE	10550 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	000	4	3/20/2017	NON-COMPETING CONTINUATION	$547,379
														Subtotal = $608,199

Issue Date FY: 2016 ( Subtotal = $583,992 )
2016	2016	SCRIPPS RESEARCH INSTITUTE	10666 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	001	3	5/6/2016	COMPETING CONTINUATION	$583,992
2016	2014	SCRIPPS RESEARCH INSTITUTE	10666 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	000	2	5/3/2016	NON-COMPETING CONTINUATION	$0
														Subtotal = $583,992

Issue Date FY: 2014 ( Subtotal = $510,801 )
2014	2014	SCRIPPS RESEARCH INSTITUTE	10666 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	000	2	7/23/2014	NON-COMPETING CONTINUATION	$510,801
														Subtotal = $510,801

Issue Date FY: 2013 ( Subtotal = $542,713 )
2013	2013	SCRIPPS RESEARCH INSTITUTE	10666 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Mental Health Research Grants	000	1	7/23/2013	NEW	$542,713
														Subtotal = $542,713

Grand Total All Awards = $7,358,607

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Proteogenetics of Autism Spectrum Disorders

Award Number: R01MH100175

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: 06/30/2026

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