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When ten days = a lifetime: Rapid whole-genome sequencing helps critically ill newborn

It’s an ‘edge-of-your-seat’ story: The newborn’s heart had stopped multiple times in the hours since her birth. Her doctors at Lucile Packard Children’s Hospital Stanford had tried everything to help her, but her situation was dire. The baby had an unusually severe form of an inherited cardiac condition called long QT syndrome. The syndrome, which is most often diagnosed in older children or adults, can be caused by a mutation in any of several genes; until the doctors knew exactly which genetic mutation was causing the condition they wouldn’t know what drug would be most likely to help. The stakes were high: by her second day of life she’d received an implantable defibrillator and several intravenous drug infusions.

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Stories of Genome Sequencing in Medical Diagnoses

Stories and articles of the use of genome sequencing in medical diagnoses of rare diseases.  

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Profile picture of Tricia Lu

Tricia Lu