Completed Research Project Outcomes

The following projects were being funded by Retina UK and have recently come to an end.

Below is a brief summary of the outcomes of each project. If you would like more information, please contact our Research Development Manager, Kate Arkell on 01280 821334 or email

Project start date: November 2018
Dr Rob Collin, Radboud University, The Netherlands
This study is being funded in collaboration with the Macular Society

A PhD student supervised by Dr Rob W J Collin at Radboud University in The Netherlands will be studying the different genetic mutations which lead to Stargardt disease – a macular dystrophy which affects people from childhood and for which there is no cure.

Stargardt is usually caused by mutations in the ABCA4 gene. Patients with two severe variants of ABCA4 develop sight loss early, as their code only contains the instructions to make harmful versions of the protein. Other people with a combination of severe and mild mutations produce a mixture of harmful and normal proteins and so tend to avoid symptoms until later.

In some people with later-onset Stargardt, bits of the genetic code are mistakenly “skipped”. So like a recipe with steps missing, the resulting protein doesn’t turn out like it is supposed to.
This project aims to understand how and why bits of the gene are “skipped”, and prevent the misreading of the gene that causes damaging protein versions to be produced. The studentship will enable a promising young scientist to lay the foundations for a future career in inherited sight loss research.

Project start date: March 2018
Dr Mariya Moosajee, UCL Institute of Ophthalmology

LCA is the most severe form of early-onset retinal degeneration. This projects aims to increase knowledge of the molecular basis of this disease and accelerate development of an effective treatment. Dr Moosajee will develop new disease models, one using stem cells derived from a patient with LCA and one in zebrafish, so that both can be used to increase understanding of the effects of the disease-causing mutation in the RDH12 gene and test the potential of new drug and gene editing treatments.

Project start date: January 2018
Prof Majlinda Lako, Newcastle University

RP is commonly caused by a fault in a group of genes that regulate the editing of unwanted passages out of a set of genetic instructions, a process known as splicing. Already, the team’s work suggests that retinal cells are much more affected by mis-splicing than other types of cell. The team will continue investigating why this goes wrong in RP, and test new gene therapy treatments in a cell model.

Read the final project report PDF | 308 KB

Project start date: March 2018
Dr Mariya Moosajee; University College London & Moorfields Eye Hospital

This project explores an alternative to traditional gene therapy, which may have implications for a wide range of inherited retinal dystrophies, not just Usher syndrome. S/MAR vectors have the capacity to hold much larger genes, and they have no viral components. The team will explore whether this new approach represents a safe and effective future treatment option.

Project dates: November 2016 – November 2018
Dr T Hurd; University of Edinburgh

This project aims to explore the mutation of the RP2 gene, which is one cause of retinitis pigmentosa. The mechanism by which this happens is not fully understood, but current data suggests that a reduced ability to deal with oxidative stress and DNA damage may be the issue. This project will explore whether this is the underlying cause, and will also test whether drugs which target DNA repair pathways and/or antioxidant therapies represent a suitable treatment option.