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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.

Studying retinal ageing in a rapidly ageing fish

Dr Nicole Noel, Institute of Ophthalmology, UCL  - £25,000

Researchers at UCL’s Institute of Ophthalmology are studying the African turquoise killifish which naturally develops many of the same retinal changes seen in people with age-related macular degeneration (AMD), but within a much shorter lifespan.

Combining gene editing and anti-inflammatory therapy to treat dry AMD

Dr Jian Liu, University of Bristol - £24,946

Dry age-related macular degeneration (AMD) currently has no effective treatment, but this study is exploring a promising new two-step approach. Researchers are testing whether combining gene editing with an existing anti-inflammatory drug could protect the cells that support vision. By boosting a key protective protein in the retina, this project could open the door to a powerful new treatment strategy for dry AMD.

Improving wet AMD care through patient experience

Mr Martin McKibbin, Gloucestershire Hospitals NHS Foundation Trust - £21,922

Understanding how patients experience treatment for wet age-related macular degeneration (AMD) is vital to improving care. This study is developing a new way to collect patient feedback across the NHS, ensuring that future treatment pathways reflect the real needs and experiences of those living with wet AMD.