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Switching off the genes that cause Best disease
Dr Amanda-Jayne Carr, UCL Institute of Ophthalmology - £170,000
August 2018 – December 2021
Research summary
Best disease is caused by a faulty gene and leads to permanent sight loss. It’s a dominant genetic disease (meaning that you only need to have one copy of the mutated gene from your parents in order to have the condition).
This research aimed to switch off the faulty gene and leave the healthy gene remaining to stop the progression of the disease, and the sight loss it causes.
An implantable eye lens for macular disease
Dr Giuliana Silvestri, Royal Hospitals, Belfast - £154,706
A clinical trial into how well magnifying intraocular lens implants work for those with vision loss due to macular disease. If successful, this may pave the way for further use, including on the NHS.
Creating a blood test to detect early AMD
Professor Majlinda Lako, Newcastle University - £229,411
March 2021 – June 2024
Background and project history
Previous research led by Professor Lako at Newcastle University developed a cell model of age-related macular degeneration (AMD) by turning patient skin cells into retinal pigment epithelium (RPE) cells, a key layer in the macula.
One of the main jobs of the RPE is producing, degrading and transporting proteins that are essential for our vision. If the RPE cells die or get damaged, as seen in AMD, it can cause light-sensing cells (photoreceptors) to die, which is what leads to sight loss.
This previous project by Professor Lako, also funded by the Macular Society, found some molecules that are more abundant in AMD cells compared to healthy cells. These molecules are produced by the RPE and move outside the cells in tiny bubble-like structures, known as exosomes, which help cells to communicate with each other. When AMD is present, the RPE exosomes can potentially be harmful for the photoreceptors.
How do ageing mitochondria work and communicate differently?
Prof Luminita Paraoan, University of Liverpool - £220,670
Mitochondria are vital parts of every cell. They create the energy that cells need to survive and carry out tasks. The important layer of cells in the back of the eye called the retinal pigment epithelium (RPE) requires a large amount of energy, so the mitochondria can get stressed. Over time and with age these mitochondria get damaged, and we see higher amounts of damage in patients with AMD. This work aims to understand what happens to these mitochondria when they age and get damaged, how we could slow or stop this damage and whether that could slow or stop the progression of AMD.
A virtual VI rehabilitation assistant
Professor Chris Dickinson, University of Manchester - £81,449
September 2020 - December 2021
Research summary
Many people with sight loss or macular disease require extra support from eye clinics, charities and low vision services. However, often those who need it most are not aware of the resources available. Professor Dickinson, from the University of Manchester, looked to create a chat-bot assistant to help answer these questions and signpost patients to useful resources.
Investigating early onset macular degeneration
Professor Graeme Black, University of Manchester - £164,042
April 2018 – September 2021
Creating eye cell models from patients with early onset macular degeneration to better understand causes and possible treatments for both early onset macular degeneration (EOMD) and age-related macular degeneration (AMD).
New treatment option for wet AMD
Dr James Whiteford, Queen Mary University of London - £148,991
May 2019 - April 2022
Research summary
Wet age-related macular degeneration (AMD) can lead to rapid sight loss. We currently have treatments which work well for most. However, for some people, the drugs don’t work. This project looks at a different way to treat wet AMD, which could help them.
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).