Rapid genome sequencing helps save hundreds of critically ill babies

1 year ago 64

Health

More than 400 children have taken part in a rapid whole-genome sequencing trial at every hospital in Australia. With results in less than three days, many of the participants have quickly been diagnosed with rare genetic conditions and received appropriate treatment

By Alice Klein

9 March 2023

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 his now a "typical 2-year-old"

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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