# Single-Cell Transcriptomic Analysis of Human Retina

> **NIH NIH R01** · UNIVERSITY OF PENNSYLVANIA · 2020 · $413,509

## Abstract

PROJECT SUMMARY
Alzheimer's Disease (AD) is a progressive neurodegenerative disease that affects 5.2 million Americans and
35 million worldwide. Pathologically, AD is characterized by deposits of extra-cellular amyloid plaques and
neurofibrillary tangles. The retina and the brain have been found to be associated with a range of neurological
diseases including AD and respond similarly to neuropathological conditions. Mounting evidence has
suggested that AD also results in visual deficits, and pathological changes in the retinas of AD patients that
include extensive loss of optic nerve and retinal ganglion cells, thinning of the retinal nerve fiber layer, and
vascular abnormalities. As a projection of the central nervous system, the retina shares many cell types found
in the brain including neurons, astrocytes, microglia, microvasculature, and a blood-retina barrier. Amyloid
precursor protein is synthesized in retinal ganglion cells and is transported by the axons of the optic nerve to
the brain. Additional proteins of the amyloid cascade are expressed by retinal neurons and glia. Further,
amyloid beta plaques have been described in all retinal layers in animal models of AD. Histologically in
humans, there is evidence of retinal thinning in AD patients and amyloid plaques in postmortem retinas of
patients with early stage AD. Despite increasing evidence of retina involvement in AD, the underlying
molecular and cellular mechanisms for these changes in the retina are still poorly understood. Another
important factor in AD is the role of neuroinflammation. Although neuroinflammatory responses are commonly
described in the brain of AD patients and animal models, only few studies have described retinal glia
alterations in AD. In this project, we will test the hypothesis that measureable anatomical and molecular deficits
occur in the retinas of individuals diagnosed with AD, and the retinal gene expression changes correlate with
gene expression changes in the brain of individuals diagnosed with AD. Collaborating with the Alabama Eye
Bank, the leader in rapid eye tissue recovery, we will perform single-cell RNA sequencing coupled to Spatial
Transriptomics of the human retina in postmortem donors with AD, with the goal of identifying cells that are
contributing to the development of AD pathology in the retina. Results from this pilot study will allow us to have
a better understanding on the molecular and cellular variations of retinal changes in AD.

## Key facts

- **NIH application ID:** 10119528
- **Project number:** 3R01EY030192-02S1
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** Mingyao Li
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $413,509
- **Award type:** 3
- **Project period:** 2019-05-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10119528

## Citation

> US National Institutes of Health, RePORTER application 10119528, Single-Cell Transcriptomic Analysis of Human Retina (3R01EY030192-02S1). Retrieved via AI Analytics 2026-05-27 from https://api.ai-analytics.org/grant/nih/10119528. Licensed CC0.

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