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.
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 […]
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.