# Elucidating photoreceptor gene function with in-vivo CRISPR knock-out perturbation assay

## TL;DR

This paper introduces a new in-vivo CRISPR-based method to study retinal gene function in mice, aiming to improve understanding of inherited retinal diseases.

## Contribution

The novel contribution is a protocol for in-vivo CRISPR-based gene knockout in the mouse retina to study gene function.

## Key findings

- A protocol was developed for in-vivo CRISPR-based gene knockout in the mouse retina.
- The method can be used to study retinal biology and the effects of gene ablation.
- It may help identify genetic modifiers of retinal phenotypes.

## Abstract

Over the past two decades, considerable progress has been made in cataloguing genes and active chromatin elements in humans. However, despite these efforts, less than a quarter of genes have been assigned a function in the context of human disease, which limits our ability to interpret clinical genome sequencing results. In the field of inherited retinal diseases, 30–40% of cases remain genetically undiagnosed. This may be partially due to our limited understanding of the function of most retina-expressed genes, which prevents the correct interpretation of their sequence variations. In the effort of elucidating retinal gene function, we aimed at developing a protocol for in-vivo CRISPR-based gene knock-out perturbation in the mouse retina. This methodology can be useful to study retinal biology in health and disease, to investigate the effects of ablation of novel uncharacterized genes, and to study possible genetic modifiers of retinal phenotypes.