# Single-Cell Transcriptomic Analysis of Human Retina

> **NIH NIH R01** · UNIVERSITY OF PENNSYLVANIA · 2020 · $561,012

## Abstract

PROJECT SUMMARY
Vision, the most important of the human senses, occupies 25% of the brain function. It requires an
orchestrated coordination between all parts of the eye. Of all the parts, the retina is the most vital for normal
perception of an image. It is a precisely layered structure lining the surface of the back of the eye, comprising
many millions of cells packed together in a tightly knit network. The optic nerve connects the retina with the
brain. The retina not only receives light, but also processes it, and transmits downstream signals to the
midbrain and the thalamus. When the retina becomes diseased, the unfortunate result is blindness, which is
the most feared disability. Diseases that affect the retina are complex because of the diverse number of cell
types and total number of cells involved. It remains challenging to assess if pathological phenotypes affect
diverse cell populations versus highly specific cell types. While advances in retinal disease diagnostics have
progressed rapidly, treatments for retinal diseases directed at primary genetic defects have progressed slowly.
Despite major successes in genetics, the vision community is lagging behind the advances in precision
medicine occurring in other specialties. Modest progress is due in part to an incomplete understanding of
human retinal biology. Anatomical differences between humans and commonly used animal models have
severely hindered the translation of results from laboratory to human health. Therefore, there is an urgent need
to collect and analyze retinal cells from human eyes to advance our understanding of human retinal diseases
and assess the cell type conservation between mouse and human. Recent technologic breakthroughs in
single-cell RNA-seq (scRNA-seq) have made it possible to measure gene expression in single cells, paving the
way for exploring cellular heterogeneity. Collaborating with the Alabama Eye Bank, we will deeply sample
human retinal cells, fully characterize cell diversity, and elucidate the functional roles of findings from genome-
wide association studies for retinal diseases. We propose the following aims. Aim 1 will generate scRNA-seq
data from eyes of 20 healthy adult human donors, and produce de-noised gene expression data for
downstream analyses. Aim 2 will characterize cell diversity in human retina and supporting tissues, and
validate novel cell type-specific marker genes by immunohistochemistry. Aim 3 will infer cell type compositions
and allele-specific gene expression in each cell type by integrating scRNA-seq and bulk RNA-seq data from
normal human eyes. These pioneering studies leverage novel methods and interdisciplinary expertise to
characterize cell type-specific gene expression in human retina and supporting tissues. By detailed
characterization of the cell atlases in four geographical areas in human eye, our study will provide novel
insights into cell-type specific functions that can power precision therapeutic targeting of retinal...

## Key facts

- **NIH application ID:** 9920150
- **Project number:** 5R01EY030192-02
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** Mingyao Li
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $561,012
- **Award type:** 5
- **Project period:** 2019-05-01 → 2023-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9920150

## Citation

> US National Institutes of Health, RePORTER application 9920150, Single-Cell Transcriptomic Analysis of Human Retina (5R01EY030192-02). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/9920150. Licensed CC0.

---

*[NIH grants dataset](/datasets/nih-grants) · CC0 1.0*
