Since July 2017, CHOC has ordered the comprehensive and cutting-edge test of rapid whole genome sequencing (rWGS) on 150 patients, with 76 of them getting a precise diagnosis that, in many cases, has resulted in life-changing care.
There is no cure for CLN2 disease. But thanks to genetic scientists, neurosurgeons and nurses at CHOC, there is hope for delaying progression of the disease. The therapy, Brineura, is a medication that treats the brain via a port under the scalp with a synthetic form of the missing enzyme. CLN2 patients come to CHOC every two weeks for the four-hour infusion to keep the drug working effectively.
Machine learning algorithms and the use of artificial intelligence could make a dramatic difference when it comes to diagnosing children with rare diseases.
September is Newborn Screening Awareness Month, and Dr. Jose Abdenur, director of CHOC’s metabolic laboratory, stresses the importance of newborn screenings.
A recently completed pilot program at CHOC and four other California clinical sites helped doctors target a baby’s specific genetic disease in just days.
With an aim of addressing a critical and unmet need in rare disease research, CHOC will advance rare disease genome editing therapeutics, thanks to a $1 million grant from The Larry and Helen Hoag Foundation.
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.
An $8 million gift from the Foundation of Caring will help CHOC advance research for a rare lysosomal storage disorder, Pompe Disease.
Project Baby Bear is a pilot project, including CHOC and four other children's hospitals, to save babies' lives through the support of rapid whole genome sequencing (rWGS).
Physicians at CHOC Hospital recently administered the first ever in-human dosing of gene therapy for Hurler Syndrome, a rare and progressive lysosomal storage disease.