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Role of ARMS2 mutations in age-related macular degeneration

Award Number: R01EY035397
ORGANIZATION: NATIONAL EYE INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 06/01/2024
PERIOD OF PERFORMANCE END DATE: 05/31/2029

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Role of ARMS2 mutations in age-related macular degeneration - PROJECT SUMMARY/ABSTRACT Genome-wide association (GWA) and linkage studies have identified >50 genes significantly associated with age related macular degeneration (AMD). However, many questions remain. Namely, are the identified GWA hits disease-causing variants or are they simply closely linked markers? And if the GWA hits are disease-causing variants, how do disruptions in these molecules lead to the observed pathologies? Further, since AMD is multifactorial, to what extent do particular combinations of factors precipitate AMD disease phenotypes or increase disease severity, as has been suggested to be the case in large scale GWA studies, where CFH and ARMS2/HTRA1 (locus on Chr. 10q26) appear to have synergistic effects on disease risk. Together they explain >50% of the genetic variability observed in AMD. Furthermore, since ARMS2 and HTRA1 are in strong linkage disequilibrium, it has been difficult to decipher whether either or both genes contribute to AMD-pathologies. The issues raised above can be addressed, in part, with appropriate animal models. Although mice do not have a macula per se, they faithfully recapitulate many aspects of retinal degenerative diseases and have been used to learn how disruption of certain molecules lead to AMD-like pathologies. In this application, we will seek in vivo confirmation of the cell-type and subcellular localization of ARMS2, and establish whether mice bearing the ARMS2A69S allele independently develop AMD-like sub-phenotypes and explore potential molecular mechanisms underlying the changes. Finally, because AMD is a multifactorial disease, we will examine if AMD- associated risk factors such as such as diet or genetic variants, such as CFH risk alleles, can potentiate AMD- like disease phenotypes. Identifying the pathogenic pathways and mechanisms underlying the disease sub-phenotypes, the goal of this proposal, is critical for developing effective therapies that can target the pre-symptomatic stage to prevent, delay onset or decrease severity of the disease. Animal models serve an important and unique role for furthering our understanding of the genetic underpinnings of disease, and as a resource to examine tissue pathology and to test therapeutics that cannot be readily done in humans.


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 = $733,431 )
2026	2026	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	3	6/9/2026	NON-COMPETING CONTINUATION	$733,431
														Subtotal = $733,431

Issue Date FY: 2025 ( Subtotal = $728,017 )
2025	2025	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	2	8/4/2025	NON-COMPETING CONTINUATION	$728,017
														Subtotal = $728,017

Issue Date FY: 2024 ( Subtotal = $722,861 )
2024	2024	JACKSON LABORATORY	600 MAIN ST	BAR HARBOR	ME	04609	HANCOCK	USA	Vision Research	000	1	5/31/2024	NEW	$722,861
														Subtotal = $722,861

Grand Total All Awards = $2,184,309

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Role of ARMS2 mutations in age-related macular degeneration

Award Number: R01EY035397

ORGANIZATION: NATIONAL EYE INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 06/01/2024

PERIOD OF PERFORMANCE END DATE: 05/31/2029

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