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.
CHOC receives $8 million to advance research for rare disorder
An $8 million gift from the Foundation of Caring will help CHOC advance research for a rare lysosomal storage disorder, Pompe Disease.
