Saturday, February 14, 2026 2/14/2026

Identifying the genetic basis of variably protease-sensitive prionopathy

Award Number: R03NS123786
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: 02/01/2022
PERIOD OF PERFORMANCE END DATE: 01/31/2023

Group Awards By:

View Award Description

Identifying the genetic basis of variably protease-sensitive prionopathy - PROJECT SUMMARY First characterized one decade ago, VPSPr is a rare neurodegenerative disease that presents clinically as Lewy body dementia or frontotemporal lobar degeneration but has been neuropathologically linked to deposits of infectious but protease-sensitive prion protein (PrP) aggregates. VPSPr cases lack mutations in the prion protein gene (PRNP) but 42% of cases have a positive family history, consistent with a genetic disease of moderate penetrance. We will apply whole exome sequencing and deep targeted sequencing to query the genetic basis of VPSPr. Identification of a genetic cause of VPSPr will aid in the differential diagnosis of prion disease and Alzheimer’s-related dementias, validate new genomic technologies for understanding neurodegeneration, and identify new cellular pathways that lead to neurodegenerative disease.


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 = $0 )
2024	2022	THE BROAD INSTITUTE, INC	415 MAIN ST	CAMBRIDGE	MA	02142	MIDDLESEX	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	1	12/1/2023	NEW	$0
														Subtotal = $0

Issue Date FY: 2022 ( Subtotal = $66,800 )
2022	2022	BROAD INSTITUTE, INC., THE	415 MAIN ST	CAMBRIDGE	MA	02142	MIDDLESEX	USA	Extramural Research Programs in the Neurosciences and Neurological Disorders	000	1	1/20/2022	NEW	$66,800
														Subtotal = $66,800

Grand Total All Awards = $66,800

Top

All Categories

About

Search

Reports

Data Submission

Award Information

Identifying the genetic basis of variably protease-sensitive prionopathy

Award Number: R03NS123786

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: 02/01/2022

PERIOD OF PERFORMANCE END DATE: 01/31/2023

Federal Websites

Department of Health & Human Services

HHS Operating Divisions

HHS Staff Divisions

Download A Document Viewer