Researcher hopes gene editing technique could treat Stargardt disease

A researcher looking into the possibility of correcting the faulty gene that causes Stargardt disease has spoken about her groundbreaking project.

Elena Piotter, a PhD student at the University of Oxford, joined the Macular Society’s monthly webinar in March to discuss her project which hopes to find a treatment for Stargardt, using a gene-editing technique called CRISPR.

The technique is being assessed as a way to alter the defective coding in the gene ABCA4 which has been identified as causing Stargardt. It is hoped this would slow the progression of the condition, or potentially stop it in its tracks.

CRISPR is a technology that cuts specific regions of DNA or RNA, like a precise molecular scissor. By looking for distinctive “spelling mistakes” that exist only in the faulty version of the gene, the team hopes to correct the code so that enough normal ABCA4 protein is made to restore diseased macular cells to health.

Talking about the research, Elena said: “Going into this project I didn’t know I wanted to do a PhD and I didn’t know anything about eyes, let alone that retinal degenerations were even a thing. The whole research programme blew me away.”

At the webinar she talked about her experience in watching the world’s first retinal gene therapy treatment.

She added: “It made me realise that the research is very applicable and doesn’t have some distant future that may or may not help society.”

If the gene editing technique proves a success, the next step would be to take the tests to clinical trials, with the potential for treating other inherited retinal conditions.

To hear more from Elena, whose project is being co-funded with RetinaUK, watch March’s Working Age and Young People My Macular and Me webinar.