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A pilot project aimed at extending rapid DNA-based diagnosis to infants with severe, but unexplained symptoms found answers for 76 different families across five California hospitals, according to a new report to be released by Rady Children’s Hospital today.
Blue Shield of California has agreed to cover rapid and ultra-rapid whole genome sequencing for critically ill infants and children in intensive care who have unexplained medical conditions. The agreement — which will use testing at Rady Children’s Institute for Genomic Medicine, a center of excellence in genetic testing — likely will spur additional insurers […]
SCIENTIFIC AMERICAN: We now have the ability to screen for thousands of genetic diseases in newborns.
Illumina CEO Francis deSouza opines that “2019 may well be remembered as the start of a new era of treatment for patients with genetic disease” and reflects on the significant advance seen in the past year.
There’s no question that autism can be traced to a combination of genetic and environmental factors. One genetic contributor in particular has in recent years intrigued scientists studying autism: DNA mutations originating in fathers’ sperm.
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 […]
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