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Using gene editing to stop progression of Stargardt disease
Prof Robert MacLaren, University of Oxford - £119,610 (co-funded with Retina UK)
New research into a gene editing therapy for those with Stargardt disease is being undertaken at Oxford University. In Stargardt disease, a mutation in the ABCA4 gene means that the ABCA4 protein produced from the gene is faulty and this leads to sight loss. The project aims to develop a gene therapy to ensure healthy ABCA4 protein is made and further damage is prevented.
Real-life costs and benefits of wearable low vision aids
Dr Keziah Latham, Anglia Ruskin University - £105,697
This project compared different low vision aids (LVAs) to explore their use, cost-effectiveness, and impact on quality of life. The aim was to help people with macular disease make informed decisions about which device best suits their lifestyle, particularly considering the cost of some devices such as wearable technologies.
Wrong place, wrong time: protein delivery and macular disease
Dr Linda Troeberg, University of East Anglia - £101,958
The health of many tissues in the body, including the retina, depends on their components being delivered to the right place at the right time. When this delivery system goes wrong, it can lead to imbalances that stop tissue functioning properly.
New form of gene editing for macular dystrophies
Dr Forbes Manson, University of Manchester - £99,672
This project aims to test whether a new form of gene editing could help those with a macular dystrophy. Current gene editing approaches are looking at fixing or changing a gene mutation, which is very fiddly and will only help a small proportion of patients with that specific mutation.
Mutations in CFI gene: which are harmless or harmful?
Professor David Kavanagh, Newcastle University - £98,506
This project aims to analyse different mutations in the gene CFI, which has been shown to be highly involved in age-related macular disease (AMD). Some mutations have been strongly linked to an increased risk of developing AMD, but some mutations have no effect on your risk.
Investigating the genetics of cone dystrophy
Dr Cristina Martinez Fernandez, John Radcliffe Hospital, Oxford -£24,700
Cone dystrophy is often caused by genetic mutations on a single gene, RPGR (Retinitis pigmentosa GTPase regulator), leading to the loss of central vision by affecting the cone photoreceptors across the retina and around the macula. This condition can significantly impact a person’s ability to perceive color and detail, particularly in bright light conditions.
Using gene therapy to investigate the pathways involved in AMD progression
Dr Ioan Matei, Edgehill University - £24,943
Gene editing is a process by which the structure of a gene can be changed by modifying the DNA sequence. The technique used is called CRISPR Cas-9 and can be thought of as a pair of scissors that can cut out, swap around or add in parts of a gene.
Creating a new laboratory macular model
Professor Rachael Pearson, KCL Centre for Gene Therapy & Regenerative Medicine - £24,912
The macula, located in the retina at the back of the eye, is responsible for central vision, colour perception, and fine detail. Despite its crucial role, we still know very little about the genes that need to be switched on to form it during early pregnancy. The project aimed to identify which genes are switched on in macular development and how disruptions to these processes can affect vision.
Looking at the connection between proline transport and macular health
Dr David Sauer, University of Oxford - £25,000
Proline is an amino acid that plays a vital role in maintaining the health of the macula. It is one of the key nutrients supplied to photoreceptor cells by the retinal pigment epithelium (RPE), helping them function and survive. This project investigated how proline is transported within the macula, and how disruptions to this process may contribute to macular diseases such as age-related macular degeneration (AMD) and Macular Telangiectasia type 2 (MacTel2).
Multi-dimensional imaging in early AMD
Dr Richard Unwin, Manchester University -£23,931
Early age-related macular degeneration (AMD) is closely linked to the switching on and off of the part of the immune system called the complement system. This system is genetically influenced and plays a key role in inflammation and defending against bacterial infections.