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Rapid genome sequencing helps save hundreds of critically ill babies

River had his genome sequenced as part of the trial, which revealed he has a genetic condition called Gaucher disease. He was then started on an experimental treatment and is now a “typical 2-year-old”

Cody Bailey

Critically ill babies in Australia have had their lives saved after their genomes were rapidly sequenced as part of a first-of-its-kind trial.

Some babies are born extremely sick: for example, they may have seizures or be unable to breathe on their own. It has traditionally been difficult to determine what causes their symptoms. In many cases, children …

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