Ryder Montano is the third and youngest CHOC patient with a movement disorder to undergo a procedure called deep brain stimulation (DBS).
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.
Batten disease patients highlight CHOC’s growing reputation as a destination for kids with rare conditions
Children from throughout the U.S. travel to receive CLN2 treatment at CHOC, the largest Brineura infusion center in the nation.
Artificial intelligence seen as critical tool in helping to diagnose rare diseases
Using machine learning algorithms and artificial intelligence could make a dramatic difference in diagnosing children with rare diseases.
CHOC rare disease expert stresses importance of newborn screening
CHOC is one of the state’s largest referral centers for the newborn screening program, which checks babies for many serious genetic disorders.
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.
