“Despite a beautiful pregnancy and delivery with every prenatal screening and precaution taken, Evan was born with mitochondrial disease.” Lindzi Scharf shares a personal essay on Variety.com about her family’s diagnostic odyssey and how RCIGM offered a break-through diagnosis and, just as importantly, a personal touch.
Florida’s AdventHealth for Children and Rady Children’s Institute for Genomic Medicine (RCIGM) have announced a partnership that will bring rapid and ultra-rapid whole genome sequencing to help diagnose critically ill infants and children in AdventHealth’s intensive care unit with the aim of providing fast diagnoses of their conditions. AdventHealth to Leverage Rady Children’s Diagnostic Sequencing […]
California Medicaid’s pilot program Project Baby Bear delivers better outcomes at lower cost via rapid whole-genome sequencing of critically ill newborns
Rady Children’s, Project Baby Bear provided diagnoses for 76 babies (43%) of those tested with rWGS. The testing led to a change in the management of 55 babies (31%) that resulted in fewer hospital days, fewer procedures or new therapies.
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.
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