The Academy of Medical Sciences funds IRR Group Leader proposal for research to improve diagnosis, better predict disease progression, and identify new treatment approaches for retinal degeneration. Dr Chloe Stanton has beaten tough competition and has been selected as one of fifty-five promising scientists from across the UK who are pioneering discovery-driven health research that will transform our understanding of current pressing health challenges.Dr Stanton will receive £125,000 over two years through the Academy of Medical Sciences’ ‘Springboard’ programme, alongside mentoring and career development support to help establish her independent research career. The scheme is supported by the UK Government’s Department for Science, Innovation and Technology, Wellcome and the British Heart Foundation and will drive progress in critical health areas. I’m delighted to have received this award which will enable me to study genetic causes and molecular mechanisms underlying rare forms of inherited retinal degeneration. I hope that these studies will lead towards new therapies for people who currently face progressive vision loss. Dr Chloe Stanton IRR Group Leader This research was developed with input from the ScotIRD patient and public involvement group, to help identify priorities for inherited retinal disease (IRD) research. IRDs are genetic conditions that can lead to progressive vision loss. One rare form, late-onset retinal degeneration (L-ORD), causes severe sight loss later in life. Scientists know that changes in a gene called C1QTNF5 are linked to L-ORD, but not all genetic changes in this gene are fully understood.Some variations in the C1QTNF5 gene have been found in patients with different types of retinal disease, but it is unclear whether these changes actually cause vision loss and current tools cannot predict their impact. This uncertainty makes it difficult to give accurate diagnoses, predict how a person’s vision might change, or provide the right support. It also slows progress toward developing treatments, as most IRDs currently have no cure.This project aims to solve that problem by studying how these genetic changes affect retinal cells. Using advanced lab techniques, Dr Stanton will create “disease-in-a-dish” models to observe how specific gene variants cause cells to stop working or die. She will also use a precise gene-editing method to test the effects of different variants. By identifying which changes are harmful, and how severe they are, the study will improve diagnosis and help predict disease progression. In the long term, this knowledge could point to new targets for treatments to prevent or slow sight loss. Left: L-ORD disease progression can be followed by retinal imaging, revealing large areas of retinal degeneration in an affected individual aged 67 years (1); Centre: The first cells in the retina to become unhealthy are the retinal pigment epithelial (RPE) cells at the back of the eye; Right: Using cutting-edge RPE disease-in-a-dish models, insights into the mechanisms underlying disease onset and progression can be studied in the lab. The transition to research leadership is one of the most challenging stages in a research career, yet it is also when creativity is often at its strongest. Springboard invests in people at the moment when bold ideas begin to take shape, providing the freedom, confidence and backing researchers need to strike out on their own and ask big questions. The projects announced today show the impact this approach can have – demonstrating how early support can translate into meaningful benefits for patients, communities and the wider health system. Professor James Naismith Vice President (Non-Clinical) at the Academy of Medical Sciences Chloe Stanton research groupThe Academy of Sciences Springboard Programme Li et al., 2023 (doi.org/10.1167/iovs.64.15.33) Tags CIR Publication date 14 Apr, 2026
