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Metabolomics a Novel Tool for Investigating the Pathogenesis of Age-related Macular Degeneration

Award Number: R01EY030088
ORGANIZATION: NATIONAL EYE INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 03/01/2020
PERIOD OF PERFORMANCE END DATE: 07/31/2030

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Metabolomics a Novel Tool for Investigating the Pathogenesis of Age-related Macular Degeneration - PROJECT SUMMARY: Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly.1 Currently, there are no treatments for its early and intermediate forms and there is a lack of reliable biomarkers to predict risk of disease progression. Therefore, there is a great unmet need for better understanding the mechanisms of AMD and its wide phenotypic variability. The metabolome is downstream of the genome and is simultaneously impacted by a wide range of environmental exposures thus being considered a close representation of the phenotype in multifactorial diseases.2,3 Indeed, our work has shown that metabolomics can address these current unmet needs4 in AMD. We developed a prospective study including patients with AMD and controls that were followed over 5 years (R01EY030088). We identified changes in the metabolomic profile of patients with AMD compared to controls, differences across AMD severity stages5 mostly in specific lipid and amino acid pathways,6 as well as changes related to AMD progression.5,7 Additionally, we identified strong associations between glycerophospholipids and specific AMD single nucleotide polymorphisms (SNPs).8,9 The current application is of the natural progression of our R01EY030088 research. We aim to further characterize the disease-causing mechanisms of AMD by quantifying previously identified metabolomic signals using targeted metabolomics. Direct quantification is crucial to confirm that these pathways are indeed dysregulated in AMD. To do so, we will validate the AMD associated metabolites and determine AMD risk by performing targeted metabolomic assays to: (Aim 1A) compare plasma metabolite quantifications between patients with AMD and controls, and across stages of disease; (Aim 1B) characterize the metabolome of eyes with AMD on retinal tissues samples from in donor eyes with AMD and controls; (Aim 1C) develop and create novel polymetabolomic risk scores for AMD and explore plasma-tissue metabolic correlations. Additionally, we will (Aim 2) characterize the metabolome of AMD progression longitudinally by comparing the profiles of AMD-progressors versus non progressors at 5- years; and (Aim 3) identify key mechanistic pathways and endotypes of AMD using multiomics: In particular, (Aim 3A); we will characterize metabolite-genetic correlations of AMD and its progression and (Aim 3B) use machine learning to identify endotypes of AMD to better classify the phenotypic diversity of the disease and point to potential treatment targets. By using plasma and tissue targeted metabolomics and studying metabolomics- gene interactions, in this proposal, we will increase the current understanding of the mechanisms that cause AMD and identify possible new targets for prevention and earlier intervention. The experiments outlined in this proposal represent the essential next phase to identify biological biomarkers of AMD and AMD progression, contributing to improved screening and risk assessment and ushering in an era of precision medicine for this blinding condition.


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: 2025 ( Subtotal = $706,337 )
2025	2025	MASSACHUSETTS EYE AND EAR INFIRMARY	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Vision Research	001	6	7/29/2025	COMPETING CONTINUATION	$706,337
2025	2024	MASSACHUSETTS EYE AND EAR INFIRMARY	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Vision Research	000	5	7/28/2025	NON-COMPETING CONTINUATION	$0
														Subtotal = $706,337

Issue Date FY: 2024 ( Subtotal = $419,891 )
2024	2024	MASSACHUSETTS EYE AND EAR INFIRMARY	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Vision Research	000	5	2/21/2024	NON-COMPETING CONTINUATION	$419,891
														Subtotal = $419,891

Issue Date FY: 2023 ( Subtotal = $420,031 )
2023	2023	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Vision Research	000	4	2/27/2023	NON-COMPETING CONTINUATION	$420,031
														Subtotal = $420,031

Issue Date FY: 2022 ( Subtotal = $407,562 )
2022	2022	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Vision Research	000	3	2/25/2022	NON-COMPETING CONTINUATION	$407,562
														Subtotal = $407,562

Issue Date FY: 2021 ( Subtotal = $407,690 )
2021	2021	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Vision Research	000	2	3/1/2021	NON-COMPETING CONTINUATION	$407,690
														Subtotal = $407,690

Issue Date FY: 2020 ( Subtotal = $437,929 )
2020	2020	MASSACHUSETTS EYE AND EAR INFIRMARY & PHYSICIAN STAFF, INC.	243 CHARLES ST	BOSTON	MA	02114	SUFFOLK	USA	Vision Research	000	1	2/26/2020	NEW	$437,929
														Subtotal = $437,929

Grand Total All Awards = $2,799,440

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Metabolomics a Novel Tool for Investigating the Pathogenesis of Age-related Macular Degeneration

Award Number: R01EY030088

ORGANIZATION: NATIONAL EYE INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 03/01/2020

PERIOD OF PERFORMANCE END DATE: 07/31/2030

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