The upcoming webinar is open to the public, and will share the latest developments in the battle against rare mtARS mitochondrial diseases.
CHOC leads 21-center study to find predictive biomarkers for infantile spasms, a rare and dangerous type of epileptic seizure
In a 21-center study, CHOC hopes to discover early treatment strategies for infantile spasms, a rare and dangerous type of epileptic seizure.
Rapid Whole Genome Sequencing continues to provide answers and hope for parents of critically ill children with rare diseases
CHOC has ordered cutting-edge tests of rapid whole-genome sequencing (rWGS) on 150 patients, with 76 of them getting a precise diagnosis.
Rapid genome testing for infants saves lives, costs
A recently completed pilot program at CHOC and other California clinical sites helped target a baby’s specific genetic disease in just days.
Journey to a rare diagnosis: Colten’s story
A CHOC PICU nurse tells the story of her son, Colten, who received a rare Alström Syndrome diagnosis with the help of specialists at CHOC.
CHOC-hosted inaugural Pacific Coast Fetal Cardiology Symposium provides vital education
More than a dozen cases were presented by various speakers and featured obstructive left heart lesions, Heterotaxy syndromes, and more topics.
