Tuesday, July 1, 2025 7/1/2025

A genomic approach to autism and schizophrenia risk through 17q12 CNVs

Award Number: K23MH120376
ORGANIZATION: NATIONAL INSTITUTE OF MENTAL HEALTH
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP
PERIOD OF PERFORMANCE START DATE: 08/15/2020
PERIOD OF PERFORMANCE END DATE: 02/02/2023

Group Awards By:

View Award Description

A genomic approach to autism and schizophrenia risk through 17q12 CNVs - PROJECT ABSTRACT/SUMMARY Once thought to spare the central nervous system, 17q12 copy number variants (CNVs) are now known to con- fer a very high risk for ASD, schizophrenia, and other related neuropsychiatric disorders. In addition to neuro- psychiatric risk, 17q12 CNVs exemplify the pleiotropy and variable expressivity that characterizes many rare genetic variants: Although the association of 17q12 CNVs with categorical psychiatric diagnosis has been estab- lished, we do not yet know its impact on dimensional neurobehavioral traits, how diverse medical comorbidi- ties correlate with the expression of psychiatric phenotypes, how background common genetic variation may affect the expression of associated medical and behavioral phenotypes, or how these change over time. There is a pressing need for a scalable strategy to study the impact of individual rare genetic variants to understand their contribution towards human phenotypes and their biological consequences. The overall aim of this K-23 proposal is to use 17q12 CNVs as an archetype to broaden our understanding of the risk for schizophrenia and autism conferred by rare genetic variants and the factors that modulate it. While other CNVs have also been associated with neuropsychiatric risk, 17q12 is strategically important as only two breakpoints are involved in this rearrangement, meaning that CNVs at this locus include the same unique genomic sequence, facilitating comparisons across individuals. In addition, single nucleotide variants (SNVs) in genes within the region have been associated with specific medical, but not psychiatric, phenotypes, offering an opportunity to understand how diverse genes within the region may contribute to increased risk. Finally, recurrent CNVs offer an oppor- tunity over SNVs to investigate gene dosage effects, an advantage we are already capitalizing on with animal and stem cell studies of 17q12 CNVs currently underway in the laboratory of the primary mentor of this pro- posal, Dr. Eric Morrow. The PI proposes to leverage his longstanding association as a scientific board member of the 17q12 foundation to develop an international collaborative, multidisciplinary group focused on under- standing of how the deletion and duplication confer risk for neurobehavioral phenotypes. To achieve our over- all aim and close the gap outlined above, we propose to longitudinally assess sixty individuals with 17q12 dele- tions and sixty individuals with 17q12 duplications. In his project, “A genomic approach to autism and schizo- phrenia risk through 17q12 CNVs”, Dr. Moreno De Luca will achieve these research and career objectives through a period of protected time for research, seminars, coursework, scientific meetings, and the expert guid- ance and support of his mentor and collaborators. The PI proposes advanced training in developing novel di- mensional assessments based on RDoC, translational endophenotypes and the ethics of human genetic re- search.


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: 2024 ( Subtotal = -$3,452 )
2024	2022	EMMA PENDLETON BRADLEY HOSPITAL	1011 VETERANS MEMORIAL PKWY	RIVERSIDE	RI	02915	PROVIDENCE	USA	Mental Health Research Grants	000	3	12/8/2023	NON-COMPETING CONTINUATION	-$3,452
														Subtotal = -$3,452

Issue Date FY: 2023 ( Subtotal = -$99,031 )
2023	2022	BRADLEY EMMA PENDLETON HOSPITAL	1011 VETERANS MEMORIAL PKWY	RIVERSIDE	RI	02915	PROVIDENCE	USA	Mental Health Research Grants	000	3	1/26/2023	NON-COMPETING CONTINUATION	-$99,031
														Subtotal = -$99,031

Issue Date FY: 2022 ( Subtotal = $198,063 )
2022	2022	BRADLEY EMMA PENDLETON HOSPITAL	1011 VETERANS MEMORIAL PKWY	RIVERSIDE	RI	02915	PROVIDENCE	USA	Mental Health Research Grants	000	3	7/20/2022	NON-COMPETING CONTINUATION	$198,063
														Subtotal = $198,063

Issue Date FY: 2021 ( Subtotal = $198,063 )
2021	2021	EMMA PENDLETON BRADLEY HOSPITAL	1011 VETERANS MEMORIAL PKWY	RIVERSIDE	RI	02915	PROVIDENCE	USA	Mental Health Research Grants	000	2	8/2/2021	NON-COMPETING CONTINUATION	$198,063
														Subtotal = $198,063

Issue Date FY: 2020 ( Subtotal = $197,111 )
2020	2020	EMMA PENDLETON BRADLEY HOSPITAL	1011 VETERANS MEMORIAL PKWY	RIVERSIDE	RI	02915	PROVIDENCE	USA	Mental Health Research Grants	000	1	8/15/2020	NEW	$197,111
														Subtotal = $197,111

Grand Total All Awards = $490,754

Top

All Categories

About

Search

Reports

Data Submission

Award Information

A genomic approach to autism and schizophrenia risk through 17q12 CNVs

Award Number: K23MH120376

ORGANIZATION: NATIONAL INSTITUTE OF MENTAL HEALTH

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP

PERIOD OF PERFORMANCE START DATE: 08/15/2020

PERIOD OF PERFORMANCE END DATE: 02/02/2023

Federal Websites

Department of Health & Human Services

HHS Operating Divisions

HHS Staff Divisions

Download A Document Viewer