CHOC and UCI Health’s new designation is expected to attract more resources and recognition to help find novel cures for rare disorders.
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.
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.
CHOC Specialists Discover New Metabolic Condition
CHOC metabolic disorders division has discovered a previously unreported condition that could provide answers for parents of children experiencing unexplained liver failure. Led by Dr. Jose Abdenur, the division’s medical director, the team has coined the genetic condition Mitochondrial Transcription Factor A (TFAM) deficiency and has published its findings this month in the journal Molecular […]
Meet CHOC’s Specialists: Metabolic Disorders
CHOC Metabolic Disorders Division specializes in diagnosing rare conditions that require hours of unraveling symptoms.
