# Integrative analysis of bulk and single-cell RNA-seq data from human retina for age-related macular degeneration

> **NIH NIH R21** · UNIVERSITY OF PENNSYLVANIA · 2021 · $239,653

## Abstract

PROJECT SUMMARY
Age-related macular degeneration (AMD) affects over 10 million Americans, twice the number affected by
Alzheimer disease and equal to the total of all cancer patients combined. Worldwide, AMD is the third largest
cause of vision loss. While there are short-term therapies available for one type of AMD, the underlying
disease is by no means cured, and vision loss is an eventual outcome for many individuals. Although advances
in retinal disease diagnostics have progressed rapidly, specific treatments for AMD directed at primary genetic
or metabolic defects have progressed slowly due to a lack of understanding of the disease pathway. The slow
progress is a result of multiple factors including lack of information about cell types involved in the initiation of
AMD. Therefore, there is an urgent need to understand what cells are contributing to the development of AMD
pathology. Identification of the cellular and gene expression changes occurring in human AMD will facilitate the
design of animal and in vitro cell models incorporating the affected cell types for future drug development.
While genome-wide association studies (GWAS) have identified strong and highly replicated association of
genetic loci for AMD, GWAS findings can only suggest locations of associated variants and not directly link any
one gene within a region to disease. Since most GWAS-identified single nucleotide polymorphisms are located
in non-coding regions, their influence on disease is believed to be on modulating RNA expression by acting as
expression quantitative trait loci. In this project, we propose to perform integrative secondary data analysis of
publically available bulk RNA sequencing (RNA-seq) and single-cell RNA-seq (scRNA-seq) data from
postmortem human retina, to test the hypothesis that measurable molecular deficits that include cell types and
gene expression occur in the retina of AMD eyes. We will further integrate with publically available GWAS data
on AMD to advance post-GWAS interpretation of AMD genetic results. By detailed characterization of cell type
composition and cell type-specific gene expression changes in human eye, our results will elucidate the
functional roles of GWAS findings that are still poorly understood and can power precision therapeutic targeting
of AMD. All new computational tools will be released as user-friendly open source software. A visualization and
query website will also be created to facilitate dissemination of our findings.

## Key facts

- **NIH application ID:** 10241966
- **Project number:** 5R21EY031877-02
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** Mingyao Li
- **Activity code:** R21 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $239,653
- **Award type:** 5
- **Project period:** 2020-09-01 → 2023-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10241966

## Citation

> US National Institutes of Health, RePORTER application 10241966, Integrative analysis of bulk and single-cell RNA-seq data from human retina for age-related macular degeneration (5R21EY031877-02). Retrieved via AI Analytics 2026-05-21 from https://api.ai-analytics.org/grant/nih/10241966. Licensed CC0.

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