Rady Children’s Institute for Genomic Medicine® (RCIGM) President & CEO Stephen Kingsmore, MD, DSc, was formally inducted today as the David F. Hale Chair in Pediatric Genomic Medicine. Serving as an endowed chair is one of the highest honors in academic medicine. 

In a study published in the October 2022 issue of BRAIN, researchers from Rady Children’s Institute for Genomic Medicine (RCIGM®) and the University of California San Diego School of Medicine describe their discovery of a new clinical syndrome, Neuro-Ocular DAGLA-related Syndrome (NODRS), in children with termination variants in the diacylglycerol lipase alpha (DAGLA) gene which encodes an enzyme in the brain that is involved in the signaling pathway of the endocannabinoid (eCB) system.

GENOMEWEB: [Newborn sequencing] research studies around the world are starting to get off the ground, ranging in size from 1,000 to more than 100,000 infants. At the inaugural International Conference on Newborn Sequencing (ICoNS) in Boston last week, eight of these endeavors — based in the US, Europe, and Australia — provided outlines of their plans and goals.