Project: Identification And Genotyping Of Patients With Inherited Retinal Disease In Northern Ireland – The Journey.
Start date: 2022
Award amount: €58,800
Professor Julie Silvestri is Clinical Director for Ophthalmic Services at the Belfast Health & Social Care Trust, Honorary Professor at the Centre Public Health at Queen’s University Belfast and Co-Lead for the NI Clinical Research Network
Prof Silvestri leads a group in Belfast, Northern Ireland. The group includes- Julie Silvestri- Lead, Eibhlin McLoone- Consultant Paediatric Ophthalmologist, Vittorio Silvestri- Senior Imaging Technician, Claire Kirk- Research Genetic Counsellor, Eyelyn Moore- Research Nurse and Elsemere Gracey- Admin Lead.
1. What are the overall aims of the project you are working on, including how it could have an impact on those affected by sight loss?
2. Why did you get into research and what do you most enjoy about it?
3. Within the next five years, where do you expect great advances to be made in vision research?
4. What are your other research interests?
5. Biography Professor Julie Silvestri
The clinical and research Teams at the Belfast Health & Social Care Trust and Queen’s University Belfast in collaboration with Trinity College Dublin, the University of Houston USA and Professor Cremer’s Team in the Netherlands have been working on Inherited Retinal Degenerations (IRDs) in the Northern Ireland population for over 25 years. The aim is to develop the ‘NI Diseases Registry for Inherited Retinal Degenerations’ and to identify the gene involved in each family in order to ready patients for clinical trials.
Funding through Fighting Blindness has been crucial in moving this research forward and particularly in giving and explaining results to patients. Work carried out through a previous grant funded by FFB allowed significant progress in identifying the genetic cause of IRDs in the NI population at research grade. The Northern Ireland IRD Database now includes over 600 adults and children with IRD.
Funding through the current project has made it possible to achieve the following:
Professor Julie Silvestri
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. – Prof. Julie Silvestri
I started a research project where I invited patients with AMD and their relatives and an equal number of patients without AMD and their relatives and I examined all patients. The result was that indeed there was “a genetic predisposition” for AMD. At the time, I really could not take project any further, but this now this been investigated and proven by other teams and gene-based treatments are in clinical trials for AMD. Since that time, I have expanded my interest into IRDs and I am delighted with the progress that has been made both worldwide and for the Northern Ireland population. This places patients in readiness for gene therapies.
Miss Eibhlin McLoone
As a Consultant in Paediatric Ophthalmology, I am all too aware of how many children attending our clinics have eye conditions with a genetic basis. With recent exciting developments in gene therapy, which is aimed at intervening in disease processes at an early stage, I am thrilled to be working alongside Prof Silvestri in expanding the existing adult inherited retinal dystrophy database to now include children from across Northern Ireland. Identifying genetic causes for the retinal dystrophies not only helps us to confirm the clinical diagnosis and to better counsel patients about their condition, but it will also allow us to quickly identify patients for trials as new research into potential treatments become available.
Within the next five years, we are hoping that therapies currently in clinical trials will become approved and available for the majority of patients with AMD and IRD. Exciting progress has also been made in treatments, which are not specific to a specific gene defect but can work for IRDs due to any gene defect. These are known as “gene agnostic therapies”. The development of these treatments would be amazing as IRDs are caused by over 300 genes.
Professor Julie Silvestri
My other research interest is in the use of “Intraocular Magnifying Devices” for macular diseases. Macular disease typically leads to loss of central vision. Normal hand-held low vision aids can be helpful, however these are limited because the field of view is small and they can be difficult to handle. A different approach is to use a magnifying lens implanted into the eye. This is often described as an “Intraocular telescope or magnifier”. The intraocular telescope is placed inside the eye at the time of cataract surgery or as a separate procedure after cataract surgery has already taken place. Implanted telescopes have several advantages, in that the scanning technique of the eye is more natural with an implanted magnifier and the field of view is larger.
Miss Eibhlin McLoone
My other research interests also focus on paediatric eye conditions iincluding albinism and childhood inflammatory eye disease. In collaboration with the Belfast Clinical Genetics team, I have set up a research group interested in assessing children in Northern Ireland with Foveal Hypoplasia, Albinism and Nystagmus-the NIFHAN project. Funding was provided by the 100K Whole Genome Sequencing project NI, and recruitment occurred between Feb 2018 and Oct 2018. Following a delay due to COVID-19, genetic results are currently being analysed.
As a member of the UK Paediatric Uveitis Group (PUG) since July 2017, I have been involved in several UK-wide studies on childhood eye inflammation. Currently, we are recruiting to the ‘Uveitis in childhood prospective national cohort study’ (UNICORNS), which is looking at children newly diagnosed with eye inflammation since the onset of COVID-19 and in particular, at the impact this is having on the child’s quality of life.
Professor Julie Silvestri is Clinical Director for Ophthalmic Services at the Belfast Health & Social Care Trust, Honorary Professor at the Centre Public Health at Queen’s University Belfast and Co-Lead for the NI Clinical Research Network.
Prof Silvestri’s programme of research focuses on genetic predisposition and causative genetic variants in ophthalmic diseases with emphasis on age-related macular degeneration (AMD) and inherited retinal disorders. Professor Silvestri has collaborated internationally with investigators in the USA, Ireland, Ghana and Israel and nationally with a number of research groups. She has also been lead and is current Co-Lead of the Vision NICRN Research group, which holds an impressive portfolio of industry funded and Investigator Led projects.
Prof Silvestri has successfully led a research team with a cumulative grant income of circa 2 million and has published over 80 peer-reviewed publications.
Fighting Blindness has previously funded Professor Silvrestri and you can find more information on that award here.