Christina A. Gurnett, MD, PhD, A. Ernest and Jane G. Stein Professor of Neurology
Head, Division of Pediatric and Developmental Neurology Chief of Neurology, St. Louis Children’s Hospital, was recently published in the American Journal of Human Genetics.
A cross-disciplinary team of researchers and physicians from Children’s National Hospital and WashU Medicine, in collaboration with physicians from around the world, identified a new genetic cause of neurodevelopmental disorders (NDDs). In a new study published in the American Journal of Human Genetics, researchers found 14 unrelated patients with 15 different sequence variants in HECTD1 – 10 missense, 3 frameshift, 1 nonsense and 1 splicing variant – with NDDs, including autism, attention-deficit/hyperactivity disorder (ADHD) and epilepsy.
Gurnett shares, “Analysis of the DNA was aided by training through the precision health-supported Bioinformatics Workshop.”