We are delighted to announce that the Fighting Blindness funded Target 5000 team won the award for the “Best scientific paper in Ophthalmology for 2021” in the RAMI (Royal Academy of Medicine in Ireland) awards. The selected paper was submitted by the lead author Dr Kirk Stephenson an Ophthalmic Surgery Specialist Registrar currently based at Galway University Hospital. The award was received on his behalf by Dr Julia Zhu (Inherited Retinal Disease Research Fellow, Mater Misericordiae University Hospital).
This award reflects the continuous efforts the Target 5000 team has put into over the last 10 years towards the diagnosis of inherited retinal degenerations (IRDs), rare genetic disorders with over 300 known genetic markers. Target 5000 was established with an ambition to shed light on the different genetic causes of IRDs affecting people in Ireland, and includes collaborations between researchers in the School of Genetics and Microbiology, Trinity College Dublin, the Mater Hospital, Dublin, the Royal Victoria Eye and Ear Hospital, Dublin and the Belfast Health and Social Care Trust, Northern Ireland.
Prior to the establishment of the Target 5000 project many patients were not engaged with healthcare and/or support services due to the lack of effective therapeutic interventions. To date in the cohort of patients enrolled in the programme the pathogenic variants for the IRD-associated genes have been detected in 62.3% of the cases. This will enable access for patients to new clinical trials and therapies as they become available.
The genetic testing provided by Target 5000 has allowed a 42.73% cost saving over independent testing, plus the value of MDT (ophthalmologists, physicians, geneticists, genetic counsellors) reconciled expertise/processing. The writers conclude that this model could be used to develop similar IRD programmes in small/medium-sized nations.
Target 5000 is now a unique programme delivering important clinical and genetic services to everyone in Ireland living with an inherited retinal degeneration (IRD). If you are a participant of Target 5000, you may email firstname.lastname@example.org or contact your clinic directly for more information.