As a pediatric neurologist, Elliott Sherr, M.D., Ph.D., has spent a significant portion of his career studying the brains of children with malformations. When a beautiful young girl presented in his clinic with dysgenesis of the corpus callosum, he went above and beyond to help her family find answers – which ended up being a mutation of her DDX3X gene. Today he is going above and beyond for all individuals with DDX3X mutations. Individuals with DDX3X Syndrome are included in his lab’s Brain Development Research Program which seeks to better understand the function of the DDX3X gene.
DDX3X-Related Neurodevelopmental Disorder – Research Paper
Learn more via the paper here. GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial […]Continue Reading
Chan Zuckerberg Initiative to Fund 30 Patient Groups, Aiming to Build a Model for Tackling Rare Disease
Originally posted on STAT by Rebecca Robbins on February 3, 2020 SAN FRANCISCO — When Facebook founder Mark Zuckerberg and his spouse Dr. Priscilla Chan in 2016 vowed to get all diseases […]Continue Reading