Reducing Retinal Blindness Worldwide

Ximena Corso Díaz, PhD

Department of Ophthalmology

Byers Eye Institute
Stanford University
Palo Alto, CA

BASIC RESEARCH PROJECT

R-Loop Mediated Regulation of Gene Transcription in the Human Retina

Research Interests

Retinal degeneration is a leading cause of blindness worldwide, yet effective treatments are scarce. Our DNA forms structures called R-loops, which are critical for controlling which genes are turned on or off. While R-loops are essential for normal cell function, an abnormal buildup can cause DNA damage and cell death, a process linked to neurodegenerative conditions. Importantly, the function of R-loops in the human retina is unknown. This project will be the first to map R-loops in the human retina genome and test whether they can be manipulated to control retinal genes involved in disease, paving the way for new therapeutic strategies.

Plans for 2026

The purpose of this project is to understand the role of R-loops in the human retina. These structures act like double-edged swords: they are necessary for establishing the unique functions of different cells, but their accumulation can trigger cell damage, leading to cell death. By identifying where R-loops are localized in the genome of human healthy and diseased retinal cells, we aim to pinpoint their role in regulating gene activity and uncover new ways of manipulating gene expression to preserve vision.


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Mission of RRF

The mission of the Retina Research Foundation is to reduce retinal blindness worldwide by funding programs in research and education. As a public charity, RRF raises funds from the private sector and the investment of its endowment funds.