The Inaugural CHOC and UCI Rare Disease Symposium & Family Conference will take place on Friday, March 11, 2022, from 10:30 a.m. to 3 p.m.
Genetics
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.
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.
CHOC performs first in-human gene therapy dosing for MPS I
CHOC clinicians recently administered the first ever in-human dosing of gene therapy for Hurler Syndrome, a rare lysosomal storage disease.
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.
