Target 5000 Team and Outputs

The Target 5000 team brings together clinicians, scientists, ophthalmologists in training, a genetic counsellor, a clinical geneticist, imaging technicians, genealogists, research nurses and support staff.

There are three clinical sites as part of Target 5000, two in Dublin and one in Belfast. Prof David Keegan at the Mater Misericordiae University Hospital (MMUH) is the coordinating clinical lead and working closely with Dr Paul Kenna and Dr Emma Duignan at the Royal Victoria Eye and Ear Hospital, Dublin and Ms Giuliana Silvestri at Belfast Health and Social Care Trust in Northern Ireland.

The research arm is led by Prof Jane Farrar at Trinity College Dublin and includes research groups in Dublin and Radbound University, Nijmegen, the Netherlands.

The Clinical Genetics Team based at MMUH includes Ms Jackie Turner as Genetic Counsellor and Dr James O’Byrne, the clinical geneticist.

Genetic testing for an inherited retinal degeneration (IRD) is an important component of a diagnosis, allowing for a greater understanding of the condition and how it may affect other family members. Furthermore, recent advances in gene-specific therapies have made the issue of genetic diagnosis of IRD all the more pressing.

The dedicated and experienced team aims to genetically characterise the population of Ireland affected by inherited retinal degenerations. To date, over 900 DNA samples have undergone next generation sequencing (NGS), using a capture panel with 254 genes known to be associated with IRDs.

This project continues to contribute to the global knowledge of genetic information for inherited retinal degenerations. New phenotypes have been identified for known inherited retinal degeneration genes leading to a reassessment of original clinical diagnosis. The discovery arm of this research is exciting and may result in the identification of new genes not previously known to be associated with retinal disease.

Each presentation of our findings to local, national and international audiences has untold ripple effects in the scientific community – Target 5000 researcher

Target 5000 outputs

The publications listed below are outputs generated from the Target 5000 funding provided by Fighting Blindness. In some instances, the research in these publications was also part-funded by other sources.