Seaver Autism Center For Research and Treatment at Mount Sinai Launches First Drug Trial for ADNP Syndrome

Researchers at the Seaver Autism Center for Research and Treatment at Mount Sinai have started recruiting participants for a new clinical trial to evaluate the safety, tolerability, and efficacy of a low dose of ketamine in children diagnosed with ADNP syndrome (also known as Helsmoortel-VanDerAa syndrome), a rare neurodevelopmental disorder caused by mutations in the activity dependent neuroprotective protein (ADNP) gene.

New test for rare disease identifies children who may benefit from simple supplement

Scientists at Sanford Burnham Prebys Medical Discovery Institute and the Centro de Biología Molecular Severo Ochoa in Spain have created a test that determines which children with CAD deficiency—a rare metabolic disease—are likely to benefit from receiving uridine, a nutritional supplement that has dramatically improved the lives of other children with the condition. The study was published in Genetics in Medicine.

U of U Health Launches Rapid DNA Testing of Critically-Ill Newborns for Faster Diagnosis, Better Treatment

University of Utah Health today announced the launch of a project with a goal of quickly and accurately detecting genetic disorders among newborns in its neonatal intensive care unit (NICU). Clinicians believe that bringing precision medicine to the NICU will transform neonatal care, leading to better diagnosis and treatment of critically ill infants with genetic-related diseases while lowering medical costs and easing the emotional and financial burden on parents and families.