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World-leading genome study spells hope for sick babies

last modified Jun 27, 2019 04:56 PM

A Cambridge-based study has shown that the diagnosis and treatment of some of the most critically ill babies can be improved bysequencing their whole genome.

The study, which is the largest of its kind in the world, uses whole genome sequencing to help doctors identify genetic conditions within two to three weeks, a process that until recently could take years.

Funded by the National Institute of Health Research (NIHR), the Cambridge Biomedical Research Centre, the Rosetrees Trust and Isaac Newton Trust, the study discovered that one in four had an underlying genetic condition. Critically, it changed the clinical management of 75 per cent of those patients.

Professor of genomics, consultant clinical geneticist and Principal Investigator at the Cambridge Institute for Medical Research, Lucy Raymond said : “We are proud that Cambridge is leading the nation on this cutting edge work with babies and young children and are really grateful to the families who have contributed to this study so generously.

“Each year almost 100,000 such patients are admitted to intensive care units across the UK and in the East of England alone it has the potential to help 3,000 annually.”

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