White Paper: Childhood Disorders of the Synapse

Ten years ago, the field of autism spectrum disorders was, in many ways, stagnant. Researchers knew that these diverse conditions—which are characterized by social and communication impairments, repetitive behaviors, and, often, a mysterious regression of skills around age 2—sometimes run in families, but they had identified few specific candidate genes. When autism came up in the news, it was usually in the context of unfounded claims about childhood vaccines. The only drug treatments were antipsychotics with harsh side effects, and the pharmaceutical industry showed scant interest in developing new medicines for this collection of neurodevelopmental disorders.A lot can happen in a decade. Growing awareness of autism spectrum disorders has led to a surge in diagnoses, which have in turn encouraged research dollars—some $314 million in 2009 alone—from the U.S. National Institutes of Health (NIH) and private philanthropic organizations. This has paid for large, high-powered genome screening studies of children with autism, as well as for studies of dozens of mouse models that mimic some aspects of autism and the so- called “syndromic” forms of autism caused by a single gene, such as Angelman, fragile X, and Rett syndromes and tuberous sclerosis. Thanks to this work, we now know that many of these conditions stem from disruption of the synapse, the cellular junction through which neurons communicate with each other by chemical messengers called neurotransmitters.Read more at...Science Translational Medicine, September 2012.