Mei Baker receives award to develop newborn screening assay for Angelman syndrome

Ultragenyx awarded Mei Baker, MD, FACMG, professor, Division of Genetics and Metabolism, and director, Newborn Screening Laboratory at Wisconsin State Laboratory of Hygiene, a $50,000 grant to fund her project “Development of a Newborn Screening Assay for Angelman Syndrome.” The five-month grant supports Baker’s work, which aims to develop and validate a newborn screening (NBS) assay for Angelman syndrome (AS). A rare disorder affecting about one in 15,000 children, AS is a neurodevelopmental disorder characterized by severe cognitive disability, motor dysfunction, speech impairment, hyperactivity, and frequent seizures. This assay could be readily integrated into currently ongoing routine NBS processes in state public health NBS programs. The five-month award began on December 1, 2022.