In 2020, Prof Hardcastle and colleagues at UCL Institute of Ophthalmology, alongside collaborators at Radboud UMC in the Netherlands, published their ground-breaking finding that RP17 was caused not by simple genetic spelling mistakes, but by complex structural re-arrangements of chromosome 17. That research was made possible by Retina UK as the major funder of the UKIRDC, with partner funding from Fight for Sight UK; you can read more about it in our earlier news article.
The researchers have now used that discovery as a springboard to success in the extremely competitive Foundation Fighting Blindness grant round. The new award will enable them to spend five years making a full exploration of underlying disease mechanisms and possible treatment strategies for RP17.
Prof Hardcastle will lead a work programme using retinal organoids (mini retinas created in the lab from the skin cells of people with RP17) to investigate how the structural changes in the chromosome give rise to damaging consequences for retinal cells, while her colleague at the Institute of Ophthalmology, Prof Mike Cheetham, will develop a mouse model for this type of RP and start looking at therapeutic approaches. Over in the Netherlands, Prof Susanne Roosing aims to get a clearer picture of the number of families affected worldwide and the specific variations in their DNA causing RP17.
Prof Hardcastle told us: “We are so pleased that this substantial funding will enable us to develop a comprehensive understanding of RP17 and investigate potential treatment strategies that could make a difference to families across the world, who have been without answers for so long. Our award demonstrates how Retina UK’s investment in studies like UKIRDC can lead on to more substantial funding for inherited sight loss research.”
Kate Arkell, Research Development Manager at Retina UK, said: “We are very proud to support outstanding researchers, like Prof Hardcastle, in conducting the early stage studies that provide the first stepping stones to new treatments. Thanks to the ongoing generosity of our supporters, we are able to kick-start the breakthroughs that can attract the level of investment capable of translating scientific discovery into comprehensive understanding and life-changing therapies.”