Treatment for Macular Degeneration

Gene therapy for Best disease

The aim of this project is to test whether CRISPR/Cas9 gene editing can be used as a treatment for autosomal dominant bestrophinopathies.

In an autosomal dominant condition a faulty gene from one parent overrides the healthy gene from the other parent. The faulty gene creates a toxic protein which damages the cells of the retinal pigment epithelium (RPE) leading to sight loss.

In this project, funded by the Macular Society, they aim to cure dominant bestrophinopathies by using gene editing to cut out the faulty gene and leave the healthy one untouched. They will test whether it is working as planned using patients' skin cells, as well as stem cells and RPE cells created from patient skin cells.

RPE Therapy for macular dystrophies

This study looks into the mitochondria, the powerhouse of the cell.

It will first investigate the mitochondrial functions in the healthy retinal pigment epithelium (RPE) and examine how these are affected by vitamin A metabolites and oxidative stress.

Secondly, the researchers will investigate how efficiently the retinal pigment epithelium removes damaged mitochondria, under normal and stressed conditions.

Gene therapy for Stargardt

Stargardt disease is usually caused by mutations in the ABCA4 gene, which contains the instructions for making a specific protein.

In some people with later-onset Stargardt disease, bits of genetic code are mistakenly 'skipped', so the resulting protein is not normal and does not function as it should.

This project, funded by the Macular Society aims to understand how and why bits of the gene are 'skipped' and prevent the misreading of the gene that causes damaging protein to be produced.

The project will also look at the whole ABCA4 gene to work out what is causing pieces to be skipped and use manmade molecules to try to prevent it happening.