# Rare Genetic Variation in Macular Degeneration

> **NIH NIH R01** · UNIV OF MASSACHUSETTS MED SCH WORCESTER · 2020 · $646,850

## Abstract

Project Summary/Abstract
Age-related macular degeneration (AMD) is a complex disease with both genetic and environmental
components contributing to personal risk. Common and rare variations in the complement and other pathways
play a large role in the etiology of the disease, but the functional effects of most of these variants are not
known. Rare variants in the complement pathway have stronger impact on the disease compared to common
variants and can have clear biologic effects. Further investigation is required to reveal the functional effects of
these rare variants and their phenotypic manifestations in this disease. The goals of this proposal are to better
understand the impact of rare variants, especially in the complement pathway, through: 1) rigorous structural
and functional analyses that will provide molecular insight into the pathophysiology of AMD; 2) genotype-
phenotype evaluation of clinically detectible sub-phenotypes utilizing multimodal imaging to pinpoint
differences between patients with and without rare variants; and 3) identification of additional novel rare
variants using next generation sequencing, which will then be evaluated for their functional and phenotypic
consequences. This collaborative effort will leverage a large and well characterized clinical study cohort, a
state of the art complement analysis laboratory, and a world renowned genetics facility. Functional studies
combined with genotype-phenotype analyses and discovery of novel genetic variants will expand knowledge of
the pathological processes related to AMD, may reveal high risk subtypes of the disease that impact disease
management, and will provide new targets for therapies.

## Key facts

- **NIH application ID:** 9979963
- **Project number:** 5R01EY028602-03
- **Recipient organization:** UNIV OF MASSACHUSETTS MED SCH WORCESTER
- **Principal Investigator:** Johanna M Seddon
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $646,850
- **Award type:** 5
- **Project period:** 2018-09-30 → 2023-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9979963

## Citation

> US National Institutes of Health, RePORTER application 9979963, Rare Genetic Variation in Macular Degeneration (5R01EY028602-03). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9979963. Licensed CC0.

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