Until recently, there were very few options for someone diagnosed with a genetic retinal disease. Most cause vision loss or blindness in working age, with a tremendous impact on patients and their families. Only in the last few years have treatments to replace their faulty genes with gene therapy been developed, giving hope to many patients.
My DPhil work, with my supervisor Robert MacLaren, aims to develop a gene editing therapy for patients with Usher syndrome, which causes both deafness and blindness. Using a cutting-edge gene editing technology called CRISPR-Cas, I am developing an approach to correct errors in genes. My work principally focuses on putting the gene editing technology into a harmless virus, that would allow us to inject this into the back of the eye. This is designed to correct mutated copies of RNA, the messenger copy of our genes used to make proteins. To test this, we are also developing pre-clinical models of Usher syndrome as a proof of principle for RNA editing in the retina. In future, we hope that precise correction of genetic mutations will be a viable treatment to prevent vision loss.
I have been immensely grateful for support from Merton College and The Rhodes Trust for my work. Merton College has been a fantastic place to study in Oxford. I am part of a welcoming and supportive community, part of a stimulating academic environment, and I have been able to travel and present my work widely at conferences with the support of the College and the Nuffield Department of Clinical Neuroscience.