Neurology and neurosurgery update: whole exome sequencing, Sesame Workshop

May 9, 2016 WES yields clinical diagnoses for 42 percent, ending ‘diagnostic odyssey’.
Whole exome sequencing (WES), a method to look at all the genes in the genome at once, yielded clinical diagnoses for 42 percent of patients whose white matter abnormalities had been unresolved an average of eight years, ending families’ “prolonged diagnostic odyssey.”  White matter disorders, which affect 1 in 7,000 children born each year, are progressive and involve age-related weakness in the region of the nerves that connect various parts of the brain to each other and to the spinal cord. Nine of 28 named authors of the study, published online May 9, 2016 in Annals of Neurology, are affiliated with Children’s National Health System.

April 6, 2016 Georgetown, Children’s National researchers to evaluate Sesame Workshop’s Autism Initiative.
Sesame Workshop, the nonprofit educational organization behind Sesame Street, has selected Georgetown University Medical Center and Children’s National Health System researchers to lead an evaluation of  “Sesame Street and Autism: See Amazing in All Children,” an initiative developed to reduce stigma and build understanding about autism spectrum disorder. Sesame Workshop launched a new phase of its autism initiative in early April. Last year, Sesame Street introduced Julia, an autistic preschool digital Muppet, and accompanying resources, such as an app, videos, storybooks, and daily routine cards as part of the Sesame Street and Autism: See Amazing in All Children initiative. Now ready for evaluation, Sesame Workshop awarded a grant for real-world testing of the materials to Bruno Anthony, PhD, deputy director of the Georgetown Center for Child and Human Development in collaboration with his wife and research collaborator Laura Anthony, PhD, at the Center for Autism Spectrum Disorder at Children’s National.