New technology is revolutionising our understanding of the genetic causes of eye disease, but it produces large amount of complicated data, and to understand the data properly we need to start working in partnerships. This research involves genetic testing of DNA from patients and their relatives. The research is being carried out across a group of eight sites across England, Scotland and Wales.
The project has three main objectives:
1. Finding new disease causing genes
2. Increasing the number of patients we can diagnose
3. Improved data sharing – we aim to work towards a national database for genetic eye disease.
This will lead to a number of other benefits, including, improving the ways that genetic eye disease is diagnosed and helping to give more people access to genetic testing. Sharing of data will lead to the development of a database of patients with a known genetic cause for their eye disease, making it easier to recruit to future clinical trials, which may in the future include treatments. Discoveries have already been made, including the identification of 6 novel disease-causing genes and the publication of over 25 scientific journal articles. Over 490 patients have been recruited to the project since it began in 2015. The research will also strengthen links with other research active groups working in eye disease, including the UK Eye Genetics Group (EGG), Genomics England Clinical Interpretation Partnerships (GECIPs), and aims to provide a UK hub for this type of research.