Brief Lay Background
Inherited retinal diseases (IRDs) damage the retina, the part of the eye that senses light, and often start in childhood. Once the retina is damaged, it cannot repair itself, leading to gradual vision loss. IRDs are caused by changes in genes, known as mutations. These mutations prevent retinal cells from working properly, resulting in vision loss. There are many known genes that can cause IRDs, with new ones still being discovered. These disorders affect people of all ages and progress at different rates, and many IRDs worsen over time.
Common types of IRDs include Leber Congenital Amaurosis (LCA), Retinitis Pigmentosa, Choroideremia, Stargardt’s Disease, and Achromatopsia.
What problem/knowledge gap does it help address?
Current treatments for IRDs can slow disease progression but cannot fully restore vision. Gene replacement therapy, which replaces faulty genes with normal ones, is limited because it doesn’t work for all IRDs. Some IRDs involve genes that are too large to replace with current technology.
Antisense oligonucleotide (ASO) therapy, can be customised to target the specific genetic defect in each patient, offering personalised treatment. ASO therapy holds promise for patients who currently have no effective treatment options, potentially stopping vision loss if diagnosed and treated early.
Aim of the research project
This project aims to develop a new treatment method that corrects harmful genetic messages rather than replacing the genes.
Potential impact on people with sight loss
By advancing knowledge in personalised medicine for IRD patients, this research enables early treatment to halt retinal degeneration and protect vision. In addition, tailoring treatment to each patient's unique genetic makeup, this project aims to bring new hope and improve the quality of life for children and families affected by inherited retinal diseases.
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