Rare Disease Day 2024 – Inherited Retinal Degeneration in Northern Ireland

February 29, 2024

Today we are raising awareness of inherited retinal degeneration (IRD) with Professor Julie Silvestri, Clinical Director for Ophthalmic Services at Belfast Health & Social Care Trust, Honorary Professor at the Centre Public Health at Queen’s University Belfast and Vision Clinical Co-Lead for our NI Clinical Research Network.

Julie leads the inherited retinal degeneration group in Belfast, including a Fighting Blindness project that aims to identify and genotype patients with IRD in Northern Ireland. Over the last 25 years the NI Diseases Registry for Inherited Retinal Degenerations has identified the gene involved in many families in order to ready patients for clinical trials. The Northern Ireland IRD Database now includes over 600 adults and children with IRD.

“My interest in research started when I was training in Ophthalmology. Mr Patrick Johnston, FRCS one of my consultants made a throwaway comment. Mr Patrick Johnson said “Julie, some families seem to have more of their fair share of age-related macular degeneration than other families. This set me thinking perhaps there was a genetic cause for AMD. At this time, this was a new concept”. This also stimulated my interest in rare diseases”. Prof. Julie Silvestri.

Julie and her clinical and research team initially began their work through research studies and in collaboration with Target 5000 Teams in Dublin and Trinity College Dublin. Funders include: MRC, MRC-HRB, NI HPSS R&D, National Eye Institute, Foundation Fighting Blindness Ireland and in 2023 these long-term research projects carried out with support through the BHSCT and QUB led to a BHSCT/NOVARTIS partnership which has funded accredited genetic testing on the BLUEPRINT genetic platform for almost 300 adults and children. This work has been supported by Miss Eibhlin McLoone, Consultant Paediatric Ophthalmologist for paediatric patients and by Dr Shane McKee, Consultant in the Department of Medical Genetics. Julie is also in negotiation to lead a commercially funded treatment trial for Stargardt disease.

Julie said, “This opportunity has been exceptional as the ability to provide accredited molecular results for patients with IRDs on a large scale is truly translational. Having an accredited molecular result for an IRD places individuals at the starting point for oncoming gene therapy trials. I addition it allows informed decisions for family planning and life choices.”

Find our more about Rare Disease Day here: Rare Disease Day 2024

Find out more about our Vision Research team here: https://nicrn.hscni.net/research/vision/

Additional Source: Prof. Julie Silvestri – Fighting Blindness