New discovery leads to $2.5million in follow-up funding

A discovery made as part of research into the genetic causes behind retinitis pigmentosa has led to a prestigious award of $2.5 million.

Professor Alison Hardcastle, lead investigator on the UK Inherited Retinal Disease Consortium (UKIRDC) project, and her team, have secured the highest funding pot available in a competitive grant programme from US-based Foundation Fighting Blindness. 

Now, scientists can build on their discovery identifying the genetic cause behind a particular type of retinitis pigmentosa, RP17.

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.

The researchers have now used that discovery as a springboard to success. The new award will enable them to spend five years making a full exploration of underlying disease mechanisms and possible treatment strategies for RP17.

Professor 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 lead to damaging consequences for retinal cells, while her colleague at the Institute of Ophthalmology, Professor Mike Cheetham, will develop a model for this type of RP and start looking at therapeutic approaches.

Over in the Netherlands, Professor Susanne Roosing aims to get a clearer picture of the number of families affected worldwide and the specific variations in their DNA causing RP17.

Professor 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 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 Professor 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.”

Keith Valentine, CEO at Fight for Sight, said: “We are so pleased to see this important piece of work given the springboard it needs. Discoveries made in research give us hope that one day we could find new treatments for RP and halt the condition affecting future generations. I’m delighted to see the team winning the highest amount of funding available in this grant round – showing the real life-changing potential this work can have in the UK and beyond.”