Rapid genome sequencing helps save hundreds of critically ill babies

1 year ago 101

Health

More than 400 children person taken portion successful a accelerated whole-genome sequencing proceedings astatine each infirmary successful Australia. With results successful little than 3 days, galore of the participants person rapidly been diagnosed with uncommon familial conditions and received due treatment

By Alice Klein

9 March 2023

River had his genome sequenced arsenic portion of the trial, which revealed helium has a familial information called Gaucher disease. He was past started connected an experimental attraction and his present a "typical 2-year-old"

Critically sick babies successful Australia person had their lives saved aft their genomes were rapidly sequenced arsenic portion of a first-of-its-kind trial.

Some babies are calved highly sick: for example, they whitethorn person seizures oregon beryllium incapable to respire connected their own. It has traditionally been hard to find what causes their symptoms. In galore cases, children …

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