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7/9 Rare Genetic Disorders as a Window into the Genetic Architecture of Mental Disorders

Award Number: U01MH119758
ORGANIZATION: NATIONAL INSTITUTE OF MENTAL HEALTH
OPDIV: NIH
AWARD CLASS: COOPERATIVE AGREEMENT
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 08/02/2019
PERIOD OF PERFORMANCE END DATE: 03/31/2025

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7/9 Rare Genetic Disorders as a Window into the Genetic Architecture of Mental Disorders - PROJECT SUMMARY The International Consortium on Brain and Behavior Copy Number Variants (IBBC-CNVs) is a collaborative effort of 9 institutions with complementary experience and expertise in phenomics and genomics. The 22q11.2 and 16p11.2 loci are associated with significant risk for neuropsychiatric disorders across the lifespan. The clinical presentations are heterogeneous, manifesting in a range of developmental neuropsychiatric disorders, including Attention Deficit Hyperactivity, Anxiety, Autism Spectrum, and Psychosis Spectrum Disorders. Taking a `genetics first' approach of ascertaining patients based on known, homogeneous genetic etiologies will allow us to overcome barriers posed by the genetic and phenotypic complexity of idiopathic developmental neuropsychiatric disorders. We postulate that CNVs exert a large main effect on psychopathology, but the nature and degree of psychopathology observed in CNV carriers is multifactorial, with contributions from additional rare and common genetic variants, as well as environmental factors. Therefore, dissecting the effects of major CNV hits as well as additional rare and common variants on dimensional measures of psychopathology can elucidate the combined contribution of genetic mechanisms to psychiatric conditions and build models of risk prediction. Notably, the presentation and course of psychopathology in the CNVs resemble these features in idiopathic disorders. Therefore, beyond the specific genetic syndromes investigated, such a cross-CNV effort will identify convergent risk mechanisms for developmental neuropsychiatric disorders that are of relevance to the broader population. We propose to dissect dimensional measures of psychosis, social-emotional processing and neurocognition, and their genetic and environmental modifiers, to elucidate the architecture of risk for neuropsychiatric disorders in CNV carriers. Prospective evaluation with dimensional measures relevant to neuropsychiatric disorders will be applied to a cohort of 2000 individuals with 22q11.2 and 16p11.2 deletions and duplications (500 per group) and their relatives as feasible. In addition, categorical psychiatric diagnoses will be assessed in CNV carriers. Recruitment for prospective phenotyping will leverage existing large cohorts that carry these reciprocal CNVs, many of whom have already been ascertained and characterized with a range of phenotypic measures. New whole genome sequencing (WGS) will be performed in CNV carriers that have not yet been sequenced. We will also utilize existing genetic data from the largest available case-control samples diagnosed with SZ, ASD, and ADHD in the PGC. Finally, analysis of common variants for a subset of family members will allow us to complement our primary analysis by exploring models of complex genetic inheritance in extended pedigrees that carry CNVs. Our ability to conceive such a large scale study capitalizes on our existing successful collaborations, complementary expertise, and institutional commitments to achieve these goals.


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 = -$223,233 )
2025	2023	REDACTED DUE TO PII		CARDIFF				GBR	Mental Health Research Grants	000	5	8/21/2025	NON-COMPETING CONTINUATION	-$223,233
														Subtotal = -$223,233

Issue Date FY: 2024 ( Subtotal = $0 )
2024	2023	CARDIFF UNIVERSITY	30-36 NEWPORT ROAD	CARDIFF				GBR	Mental Health Research Grants	000	5	5/21/2024	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2023 ( Subtotal = $277,116 )
2023	2023	CARDIFF UNIVERSITY	30-36 NEWPORT ROAD	CARDIFF				GBR	Mental Health Research Grants	000	5	3/31/2023	NON-COMPETING CONTINUATION	$277,116
														Subtotal = $277,116

Issue Date FY: 2022 ( Subtotal = $277,116 )
2022	2022	CARDIFF UNIVERSITY	30 36 NEWPORT ROAD	CARDIFF	SOUTH GLAMORGAN			GBR	Mental Health Research Grants	000	4	5/11/2022	NON-COMPETING CONTINUATION	$277,116
														Subtotal = $277,116

Issue Date FY: 2021 ( Subtotal = $277,116 )
2021	2021	CARDIFF UNIVERSITY	30 36 NEWPORT ROAD	CARDIFF	SOUTH GLAMORGAN			GBR	Mental Health Research Grants	002	3	6/25/2021	NON-COMPETING CONTINUATION	$0
2021	2021	CARDIFF UNIVERSITY	30 36 NEWPORT ROAD	CARDIFF	SOUTH GLAMORGAN			GBR	Mental Health Research Grants	000	3	4/19/2021	NON-COMPETING CONTINUATION	$277,116
2021	2021	CARDIFF UNIVERSITY	30 36 NEWPORT ROAD	CARDIFF	SOUTH GLAMORGAN			GBR	Mental Health Research Grants	001	3	6/24/2021	NON-COMPETING CONTINUATION	$0
														Subtotal = $277,116

Issue Date FY: 2020 ( Subtotal = $277,116 )
2020	2020	CARDIFF UNIVERSITY	30 36 NEWPORT ROAD	CARDIFF	SOUTH GLAMORGAN	CF24 0DE		GBR	Mental Health Research Grants	001	2	4/2/2020	NON-COMPETING CONTINUATION	$277,116
2020	2019	CARDIFF UNIVERSITY	30 36 NEWPORT ROAD	CARDIFF	SOUTH GLAMORGAN	CF24 0DE		GBR	Mental Health Research Grants	000	1	12/5/2019	NEW	$0
														Subtotal = $277,116

Issue Date FY: 2019 ( Subtotal = $285,823 )
2019	2019	CARDIFF UNIVERSITY	30 36 NEWPORT ROAD	CARDIFF	SOUTH GLAMORGAN	CF24 0DE		GBR	Mental Health Research Grants	000	1	7/30/2019	NEW	$285,823
														Subtotal = $285,823

Grand Total All Awards = $1,171,054

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7/9 Rare Genetic Disorders as a Window into the Genetic Architecture of Mental Disorders

Award Number: U01MH119758

ORGANIZATION: NATIONAL INSTITUTE OF MENTAL HEALTH

OPDIV: NIH

AWARD CLASS: COOPERATIVE AGREEMENT

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

PERIOD OF PERFORMANCE START DATE: 08/02/2019

PERIOD OF PERFORMANCE END DATE: 03/31/2025

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