Your Genome, Your Voice: Big jigsaw, little jigsaw; new genome technologies for sight loss

Although many patients will have received a diagnosis for their eye condition, its genetic cause remains a mystery. Without this crucial piece of information, the likely impact of the condition on them, or on members of their wider family will be uncertain. It also hampers research and access to new trials and treatments. But a new genomic technique called long read sequencing promises to transform diagnosis and treatment for hard to identify cases. On Rare Disease Day, Scientist Dr Gavin Arno and clinician Dr Siying Li from Moorfields, joined by patients and charity representatives discussed this new tool and its significance for those with sight loss.