Children's Hospital Los Angeles
Children's Hospital LA Researcher Wins $2.8M NIH Grant for Retinoblastoma Liquid Biopsy Study
The international study will sample the aqueous humor found in children's eyes and follow participants for at least two years to monitor for cancer recurrence.
The liquid biopsy assay uses low-pass whole-genome sequencing to screen for copy number alterations in blood, cerebral spinal fluid, and aqueous humor samples.
Researchers showed that methylation patterns on cell-free DNA in the eye can differentiate retinoblastomas into more or less aggressive subtypes.
CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients
Investigators diagnosed additional Mendelian conditions with copy number variant analyses on pediatric patients who remained undiagnosed after exome sequencing.
Children's Hospital Los Angeles used a SARS-CoV-2 sequencing panel to determine if patients had become infected from the same source as healthcare workers.