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Maverick Coltrin was 6 days old and very, very sick. His parents were growing increasingly alarmed, first over his reluctance to eat, then jaundice and spasms. After Maverick stopped eating entirely, they raced him to the emergency room at Rady Children’s Hospital in San Diego.
As researchers wrap up four projects funded by the National Institute’s of Health in 2013 to investigate the use of sequencing in newborns, there seems to be clarity that sequencing is a great tool for helping to quickly diagnose acutely ill newborns but that it might not be quite ready to replace standard newborn screening tests […]
When babies become intensely ill, it can be difficult to know what has gone wrong. But the answer, quite often, is hidden somewhere in their genes. Whole-genome sequencing — in which scientists can read the nearly 3 billion chemical letters in DNA — can help turn up that answer. And scientists, increasingly, are laying out […]
Daily vitamin doses were all that 11-month-old Maverick Coltrin needed to end the deadly seizures that arrived shortly after his birth. But that simple solution materialized only after quick-turnaround genetic sequencing helped doctors at Rady Children’s Hospital in San Diego find the correct diagnosis fast enough to make a difference for the rapidly-deteriorating infant.
Whole-genome and whole-exome sequencing have greater diagnostic and clinical utility than chromosomal microarrays in children thought to have a genetic disease, according to a new analysis. This suggested to the Children’s Institute for Genomic Medicine-led research team that sequencing should be considered a first-line genomic test.
A superteam of seven pediatric hospitals with advanced genetic and genomic testing capabilities is reporting progress in their efforts to improve the diagnosis of rare childhood diseases and hasten treatment.
Children who are born severely ill or who develop serious illness in the first few weeks of life are often difficult to diagnose, with considerable implications for their short and longer-term care. Whole genome sequencing* carried out quickly has the potential to provide an early diagnosis, and thus improve the clinical care of these infants […]
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