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Turning off faulty genes to treat macular dystrophy
Dr Jacqueline van der Spuy, University College London - £200,000
There are very few treatments available for macular dystrophies, which are caused by faulty genes. One macular dystrophy is Doyne honeycomb dystrophy, which causes central vision loss in adults. Research at University College London aims to use gene therapy to treat Doyne honeycomb dystrophy patients.
Using data science to diagnose AMD sooner and detect change over time
Dr Ruth Hogg, Queens University Belfast - £113,860
Many risk factors are known to be involved in the development of age-related macular degeneration (AMD). Although we still do not know which are the most important. Using health data from thousands of older people with and without AMD, Dr Ruth Hogg aims to better understand the role these factors play.
Using technology to aid functional vision
Professor Paul McGraw, Nottingham University - £167,082
December 2019 – June 2024
What’s the problem?
People with macular disease often lose some or most of their central vision due to the deterioration of their macula. To compensate for the loss in central vision, using the remaining peripheral (side) vision is often required. This is called eccentric viewing.
A key problem is that the areas of the eye used in eccentric viewing are not well suited to fine-detailed tasks. Some people rely on technology like apps, tablets and smartphones to help, although many still have trouble reading and seeing detailed images. It’s thought that changing how these apps display images could improve reading speed, face recognition and fine detail vision (acuity).
Helping keep mitochondria healthy to keep macula cells alive
Prof Andrew Dick, University of Bristol - £243,732
This project will investigate two molecules involved in energy production and immunity in the cells of the macula. We know from a previous Macular Society funded project at Bristol University that the loss of these molecules disrupts cell metabolism, and causes cell ageing and harmful inflammation - all of which are central to the progression of AMD. This research will look at how these molecules work in the cells and investigate whether, by introducing more of them, we could restore cell health.
Manchester Eye Tissue Repository Genome-Transcriptome Project
Dr Jamie Ellingford, University of Manchester - £249,950
This research will help our understanding of what gene changes, or combination of gene changes, are involved in macular dystrophies. Understanding the genes and the variants that are responsible for macular dystrophies is important, so that more patients can receive a correct diagnosis and to develop treatments for these genetic conditions.
Creating a wet AMD drug using flower compounds
Prof Dulcie Mulholland, University of Surrey and Prof Tim Corson, Indiana University - £196,339
Current drugs available for wet AMD are extremely valuable and have helped maintain vision in many people. However, not all patients treated with these anti-VEGF injections respond well to them. Different types of drugs need to be available for these people. This research aims to test whether a group of compounds called 'homoisoflavanoids', found in rare hyacinth plants, may be able to stop blood vessel growth in the macula.
How genetic mutations in ABCA4 cause sight loss
Professor Andrew Webster, Moorfields Eye Hospital - £109,432
August 2021 – February 2024
Our DNA contains genes that hold the information and instructions that determine how our cells develop and function. Some genes determine physical characteristics such as eye or hair colour, while others can influence the chance of developing a health condition.
One example is the ABCA4 gene, which is involved in a number of macular dystrophies, particularly Stargardt disease. Changes or ‘mutations’ to this ABCA4 gene can lead to developing a macular dystrophy. However, a lot of these changes are also seen in people without any sight loss. Professor Andrew Webster’s team at Moorfields Eye Hospital set out to understand why some people experience sight loss and others don’t, even with the same gene changes.
Improving support services for teenagers with macular disease
Dr Michael Crossland, UCL & Moorfields Eye Hospital - £134,280
This project aims to improve the wellbeing and mental health of teenagers and young people with macular disease. Support services for those with visual impairment can be poorly linked and may not be widely known to those who need them. This work aims to connect the services most important to patients and see whether providing these services at point of diagnosis can help improve their quality of life.
Investigating factors involved in rate of AMD progression
Professor Adam Dubis, University College London - £244,860
This project aims to investigate which gene mutations may be involved in why those with age-related macular degeneration (AMD) experience differences in the rate of disease progression. Using artificial intelligence, the researchers aim to generate a way to subgroup patients based on genetic risk factors to better understand risk of progression.
Testing therapies to reduce severity of visual hallucinations
Prof Robin Walker, Royal Holloway University - £37,178
Many people with vision loss experience Charles Bonnet Syndrome (CBS), which leads to visual hallucinations. These hallucinations can range from simple shapes and patterns to vivid and realistic faces and scenes. They can severely affect a person’s life and can be distressing. This trial aims to test current suggested techniques for reducing the severity of hallucinations.