In a 21-center study, CHOC hopes to discover early treatment strategies for infantile spasms, a rare and dangerous type of epileptic seizure.
Metabolic disorder families increasingly turning to CHOC for historic gene therapy treatments
Families with kids who have rare metabolic disorders are coming from all over the U.S. for investigational gene therapy treatments at CHOC.
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.
Meet CHOC’s Specialists: Metabolic Disorders
CHOC Metabolic Disorders Division specializes in diagnosing rare conditions that require hours of unraveling symptoms.
