Thursday, July 3, 2025 7/3/2025

Alzheimer's disease genetic architecture in the Portuguese population

Award Number: R01AG067426
ORGANIZATION: NATIONAL INSTITUTE ON AGING
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 05/15/2020
PERIOD OF PERFORMANCE END DATE: 05/22/2023

Group Awards By:

View Award Description

Alzheimer's disease genetic architecture in the Portuguese population - PROJECT SUMMARY Even though several genes, mutations and genetic variants have been identified to have key roles in Alzheimer’s disease (AD), these findings have not yet been translated into effective treatments. In order to increase our chances of identifying successful drug targets it is critical to identify new genetic causes and risk factors of AD. Our long-term goal is therefore to use genetic approaches to identify therapeutic targets for the prevention, onset delay or treatment of AD. Taking advantage of the unique genetic background of an understudied population, this application’s main objective is to identify novel genes and genetic factors involved in AD. The proposed research focuses on the Portuguese population because of its unique genetic profile; although quite homogeneous and mainly European, the genetic profile of this population is enriched by contributions from North and Sub-Saharan African as well as from Sephardic Jewish populations. Moreover, the high number of early-onset cases and of families with several generations affected by AD, indicates a strong genetic contribution in the Portuguese population, despite the low frequency of known AD mutations. Our preliminary studies also show that the frequency of risk variants differs substantially from other populations. Specifically, common and rare genetic risk variants associated with AD will be identified by using a combination of whole genome genotyping, genome-wide association study (GWAS) analyses, and imputation in a Portuguese sample set. These data will then be used to perform a multi-ethnic GWAS by incorporating publicly available data from other populations, allowing the increase of diversity and statistical power of our GWAS. In addition, the genetic characterization of familial and early-onset AD cases in the Portuguese population will be carried out by performing whole genome sequencing. Analyses in multiplex families lacking coding mutations in the known AD-causing genes and in a sub-group of early-onset AD cases will allow the identification of variants with strong effects in disease. Together these data will allow the identification of common, rare and very rare variants with different effects in AD. The proposed research will also allow the comparison and integration with data generated from worldwide populations leading to i) a substantial increase in diversity and statistical power of the currently available genetic analyses in AD, and ii) the development of a publicly available database and interactive map (accessible via Alzforum) reporting the different genetic contributions to AD across populations.


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 = -$1,182,493 )
2024	2023	VAN ANDEL RESEARCH INSTITUTE	333 BOSTWICK AVE NE	GRAND RAPIDS	MI	49503	KENT	USA	Aging Research	001	4	12/29/2023	NON-COMPETING CONTINUATION	-$908,823
2024	2022	VAN ANDEL RESEARCH INSTITUTE	333 BOSTWICK AVE NE	GRAND RAPIDS	MI	49503	KENT	USA	Aging Research	000	3	12/29/2023	NON-COMPETING CONTINUATION	-$273,670
														Subtotal = -$1,182,493

Issue Date FY: 2023 ( Subtotal = $908,823 )
2023	2023	VAN ANDEL RESEARCH INSTITUTE	333 BOSTWICK AVE NE	GRAND RAPIDS	MI	49503	KENT	USA	Aging Research	002	4	6/7/2023	NON-COMPETING CONTINUATION	$0
2023	2023	VAN ANDEL RESEARCH INSTITUTE	333 BOSTWICK AVE NE	GRAND RAPIDS	MI	49503	KENT	USA	Aging Research	001	4	4/12/2023	NON-COMPETING CONTINUATION	$908,823
2023	2022	VAN ANDEL RESEARCH INSTITUTE	333 BOSTWICK AVE NE	GRAND RAPIDS	MI	49503	KENT	USA	Aging Research	000	3	10/24/2022	NON-COMPETING CONTINUATION	$0
														Subtotal = $908,823

Issue Date FY: 2022 ( Subtotal = $889,196 )
2022	2022	VAN ANDEL RESEARCH INSTITUTE	333 BOSTWICK AVE NE	GRAND RAPIDS	MI	49503	KENT	USA	Aging Research	000	3	7/18/2022	NON-COMPETING CONTINUATION	$889,196
														Subtotal = $889,196

Issue Date FY: 2021 ( Subtotal = $793,289 )
2021	2021	VAN ANDEL RESEARCH INSTITUTE	333 BOSTWICK AVE NE	GRAND RAPIDS	MI	49503	KENT	USA	Aging Research	000	2	6/25/2021	NON-COMPETING CONTINUATION	$793,289
														Subtotal = $793,289

Issue Date FY: 2020 ( Subtotal = $533,389 )
2020	2020	VAN ANDEL RESEARCH INSTITUTE	333 BOSTWICK AVE NE	GRAND RAPIDS	MI	49503	KENT	USA	Aging Research	000	1	5/6/2020	NEW	$533,389
														Subtotal = $533,389

Grand Total All Awards = $1,942,204

Top

All Categories

About

Search

Reports

Data Submission

Award Information

Alzheimer's disease genetic architecture in the Portuguese population

Award Number: R01AG067426

ORGANIZATION: NATIONAL INSTITUTE ON AGING

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 05/15/2020

PERIOD OF PERFORMANCE END DATE: 05/22/2023

Federal Websites

Department of Health & Human Services

HHS Operating Divisions

HHS Staff Divisions

Download A Document Viewer