Overview

• Dr Ellie Irwin faced potential eye removal after five years of undiagnosed chronic eye inflammation caused by a rare bacterial infection.
• The metagenomics team at Great Ormond Street Hospital identified a specific strain of leptospirosis using an untargeted genetic test, enabling targeted treatment.
• A three-week course of antibiotics restored Dr Irwin’s vision in time for her wedding earlier this year, marking a life-changing outcome.
• The GOSH/UCL metagenomics service, developed over a decade, is now the UK’s first accredited platform, processing six patient samples weekly.
• A clinical trial has been initiated to expand the use of metagenomic diagnostics for hard-to-diagnose ocular infections, building on this success.