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“While we’ve made great progress in diagnosing rare genetic diseases for critically ill newborns and children, only an estimated 10% of childhood genetic diseases currently have effective treatments,” Stephen Kingsmore, president and CEO of the Rady Institute for Genomic Medicine, told Clinical Omics. “The collaboration with Takeda is our Institute’s first effort focused on ending the […]
For an infant with seizures, every passing hour risks more harm to the newborn’s brain. That’s why this story from Rady Children’s Hospital in San Diego is so inspiring, not just for parents and their children, but for doctors and geneticists.
Innovative medical technology is constantly being developed, and with it comes the possibility for incredible breakthroughs in modern medicine. California has never seen scientific advancements within closer reach than they are today. For critically ill infants hospitalized with unexplained rare diseases, the opportunity to benefit from a medical miracle has arrived.
Undiagnosed genetic diseases take a serious physical and emotional toll on families. Rapid genome sequencing can provide answers and guide treatment decisions, but so far, insurance companies have been reluctant to pay. That’s beginning to change.
A Central Florida family is thanking AdventHealth and genomic testing for a life-saving diagnosis that saved their baby boy. Six months ago, when Michael Ferrara-Urban was three-months-old, he was admitted to AdventHealth for Children (AHFC) for “failure to thrive.” Last April, AHFC partnered with Rady Children’s Institute for Genomic Medicine in San Diego to bring […]
Global Genes will work with Rady Children’s Institute for Genomic Medicine (RCIGM) to develop a support network designed to help patients and families dealing with gene-based rare diseases. The collaboration aims to help shorten the path to accurate diagnoses, and reduce the gap in service and support for such diseases.
“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.
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