CHOC has ordered cutting-edge tests of rapid whole-genome sequencing (rWGS) on 150 patients, with 76 of them getting a precise diagnosis.
Dr. Neda Zadeh
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.
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.
CHOC-hosted inaugural Pacific Coast Fetal Cardiology Symposium provides vital education
More than a dozen cases were presented by various speakers and featured obstructive left heart lesions, Heterotaxy syndromes, and more topics.
CHOC Conference Addresses Medical Complexities
With the number of children with complex medical needs expected to double in the next decade, an upcoming CHOC conference will provide important information for medical providers who are diagnosing and treating this patient population. The Dec. 3 “Connecting the Dots … Diagnosing and Treating Children and Adolescents with Medical Complexity” will focus on commonly […]
CHOC Provides Comprehensive Care for Children with Neurofibromatosis Type 1
CHOC Neurofibromatosis Program – a recently nationally recognized program by the Children’s Tumor Foundation as a Neurofibromatosis Affiliate Clinic – provides comprehensive care to even the most rare medical issues in association with Neurofibromatosis type 1 (NF1). NF1 is a common genetic condition that primarily affects the skin and the nervous system and is caused […]
