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.
CHOC earns $1 million grant to advance rare disease genome-editing therapy
CHOC will advance rare disease genome editing therapeutics, thanks to a $1 million grant from The Larry and Helen Hoag Foundation.
CHOC joins drug trial for rare disease that devastates families
Dr. Wang and his team at CHOC are participating in a clinical trial of a drug intended to treat a rare pediatric disease called MPS IIIA.
