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Metagenomics test saves woman's sight after mystery infection


After years of suffering, a cutting-edge test diagnosed Ellie Irwin with a rare bacterial infection.

Professor Carlos Pavesio, consultant ophthalmologist at Moorfields Eye Hospital in London, says Ellie's case is a "breakthrough in the diagnosis of infectious diseases". It was one of Ellie's doctors at Southmead Hospital in Bristol who suggested metagenomics - a last resort test not generally available to patients and only used where standard diagnostic tools have failed to identify or rule out infection. Metagenomics technology uses cutting-edge genomic sequencing, which can identify all bacteria, fungi or parasites present in a sample by comparing them against a database of millions of pathogens.

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