• The baby was gravely ill. Rapid sequencing turned around a diagnosis in 13 hours - and pointed to a treatment

    11 days ago - By STAT

    When the boy was brought to the San Diego emergency department one night last October, he was inconsolable. Within about half an hour, clinicians had a clue of what was wrong: A CT scan showed signs of disease in the 5-week-old's brain.
    There was another clue, too, but also a portent: A decade earlier, the parents' infant daughter had presented with some of the same symptoms at around the same age, but never received a diagnosis. She developed seizures and died at 11 months.
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