Research grants

Project start date: 2023
Dr Roly Megaw, Edinburgh University

Retina UK and the Macular Society are co-funding a PhD studentship to investigate how particular mutations in the RPGR gene impact cone photoreceptors.

Different mutations in RPGR can cause either Retinitis Pigmentosa (which first affects the peripheral ‘rod’ photoreceptors and therefore our visual field and night vision) or a Cone Rod dystrophy (which first affects the macular ‘cone’ photoreceptors and therefore our central vision). Currently, we don’t know why these different mutations cause different symptoms.

Using cutting edge techniques in collaboration with scientists in Geneva, the team will mimic macular disease and investigate the mechanisms underlying cone damage. Finding out why different RPGR mutations cause different diseases could help identify future treatments, and could even provide a springboard for preventative therapies.

Project start date: 2023
Prof  Jacqueline van der Spuy, UCL Institute of Ophthalmology

Retina UK and the Macular Society are co-funding a PhD studentship to explore the use of prime editing to correct the most severe mutations causing Stargardt disease.

Prime editing is a cutting-edge technology in which a disease causing genetic change is precisely and permanently repaired in an individual’s genetic code, restoring the normal function of the gene. In this study, the researchers will investigate whether prime editing can efficiently correct one of the most common genetic changes causing Stargardt disease. By establishing methods for safely and precisely editing these particular faults, the project could contribute to the subsequent application of the technique across a huge range of conditions, potentially transforming future treatments for a wide proportion of those living with inherited sight loss.

This project is being co-funded by The Macular Society.

Project start date: 2023
Prof Omar Mahroo & Dr Matteo Rizzi, UCL Institute of Ophthalmology

Retina UK and the Macular Society are co-funding a PhD studentship. as part of a study to better understand how specific visual symptoms are linked to the diagnosis and prognosis of macular degeneration

We know how important it is for those living with inherited sight loss to feel that their experiences are understood by healthcare professionals. This project will provide clear evidence of the impact of certain disruptive and potentially distressing Stargardt disease symptoms that are typically under-recognised by ophthalmologists. Formal recognition of these symptoms will highlight the need for them to be discussed during appointments, ensuring that those living with Stargardt’s receive appropriate reassurance and support.

… and assess its efficacy in restoring RPE and photoreceptor function
Project start date: 2022
Professor Majlinda Lako, Newcastle University

A major form of RP is caused by defects in components of the “spliceosome”, an important and complex structure within cells. The spliceosome edits unwanted or nonsensical passages out of a set of genetic instructions so that only intelligible code remains for the cell to use. One of the most common causes of RP is a fault in a group of genes that regulate this process.

Thanks to earlier funding from Retina UK, Prof Lako and her team have used stem cell technology to generate retinal cells from patients with mutations in a key gene involved in the splicing process (PRPF31), and have demonstrated that retinal pigmented epithelial (RPE) cells and photoreceptors are affected at the structural and functional level.

The newly funded project aims to develop a PRPF31 gene therapy to increase levels of healthy PRPF31, and use the retinal cell model to assess the therapy’s efficacy in restoring RPE and photoreceptor function. This highly collaborative study, involving four institutions across the UK and Germany, provides a unique opportunity for rapid proof-of-concept, leading to the potential for rapid translation into a Phase I/II clinical trial for PRPF31 RP patients as an immediate outcome. Between them, faulty spliceosome genes are a relatively major cause of RP, so the outcomes of this project should also be applicable to the development of treatments for a wider proportion of our community.

Project start date: October 2020
Prof Robert MacLaren, Oxford University
This study is being funded in collaboration with the Macular Society

We are now supporting a PhD studentship at Oxford University, co-funded by the Macular Society, that will look into a potential new method for treating Stargardt disease and other conditions where “conventional” gene therapy may not be possible. Under the supervision of Prof Robert MacLaren, the student will investigate whether it is possible to use harmless viruses to carry special molecular tools into retinal cells in order to edit and correct the defective genetic code. Rather than targeting DNA, this technique will aim to edit a different molecule called RNA that copies and then carries the genetic instructions from the centre of the cell to the protein building machinery; the original DNA is hence left unaltered and safety may be improved.

• Read the six month project report PDF file | 127 KB (June 2021)
• Read the twelve month project report PDF file | 477 KB (December 2021)