Official websites use .gov

A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS

A lock ( 🔒 ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

Need Help

Investigating UBE3A as a driver gene in Duplication 15q syndrome

Award Number: R01NS129914
ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 03/01/2023
PERIOD OF PERFORMANCE END DATE: 02/29/2028

Group Awards By:

View Award Description

Investigating UBE3A as a driver gene in Duplication 15q syndrome - PROJECT SUMMARY Maternal duplication of the chromosome 15q11-q13 locus (Dup15q syndrome) is a major genetic cause of autism spectrum disorder. UBE3A is contained within this genetic locus; compelling evidence suggests it is the main driver of Dup15q syndrome pathophysiology. Accordingly, the normalization of UBE3A levels might effectively treat the syndrome, but this has been difficult to test. To allow us to test this idea, we have generated conditional Ube3a-overexpression mice that have construct validity for the principal cytogenetic abnormalities underlying Dup15q syndrome: interstitial chromosome 15 duplication (1 extra copy of Ube3a) and isodicentric chromosome 15 (2 extra copies of Ube3a). Thus, our models will be valuable for determining the extent to which increases in UBE3A protein levels are necessary and sufficient to drive Dup15q-relevant pathophysiology. With these mice, we are also able to genetically normalize Ube3a expression at different ages, allowing us to identify the window during which normalization provides substantial therapeutic benefit. To advance an informed intervention strategy for Dup15q syndrome, we will use our new mouse models to (1) establish the behavioral and physiological consequences of UBE3A overexpression, (2) determine when normalization of UBE3A rescues pathophysiology, and (3) optimize an approach to appropriately knock down UBE3A and correct pathophysiology in Ube3a-overexpression mice.


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 = $404,368 )
2026	2026	UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL	104 AIRPORT DR STE 2200	CHAPEL HILL	NC	27599	ORANGE	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	4	2/27/2026	NON-COMPETING CONTINUATION	$404,368
														Subtotal = $404,368

Issue Date FY: 2025 ( Subtotal = $363,931 )
2025	2025	UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL	104 AIRPORT DR STE 2200	CHAPEL HILL	NC	27599	ORANGE	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	3	3/6/2025	NON-COMPETING CONTINUATION	$363,931
														Subtotal = $363,931

Issue Date FY: 2024 ( Subtotal = $392,239 )
2024	2024	UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL	104 AIRPORT DR STE 2200	CHAPEL HILL	NC	27599	ORANGE	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	2	2/19/2024	NON-COMPETING CONTINUATION	$363,931
2024	2024	UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL	104 AIRPORT DR STE 2200	CHAPEL HILL	NC	27599	ORANGE	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	001	2	4/10/2024	NON-COMPETING CONTINUATION	$28,308
														Subtotal = $392,239

Issue Date FY: 2023 ( Subtotal = $422,518 )
2023	2023	UNIVERSITY OF NORTH CAROLINA AT CHAPEL HILL	104 AIRPORT DR STE 2200	CHAPEL HILL	NC	27599	ORANGE	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	1	2/17/2023	NEW	$422,518
														Subtotal = $422,518

Grand Total All Awards = $1,583,056

Top

All Categories

About

Search

Reports

Data Submission

Award Information

Investigating UBE3A as a driver gene in Duplication 15q syndrome

Award Number: R01NS129914

ORGANIZATION: NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 03/01/2023

PERIOD OF PERFORMANCE END DATE: 02/29/2028

Federal Websites

Department of Health & Human Services

HHS Operating Divisions

HHS Staff Divisions

Download A Document Viewer