For the past two decades, autism research has depended on a combination of public and private funding sources. Coordination of these efforts is one responsibility of the US Federal Government’s Interagency Autism Coordinating Committee (IACC), which has responsibility for ensuring optimal utilization of federal funds and providing guidance to private funders. To facilitate these efforts, the IACC depends on the Strategic Plan for Autism Research, initiated in 2009 and updated annually.7 The document purposefully uses plain language to summarize research Inhibitors,research,lifescience,medical directions, in order to fully reflect
the various views of the “stakeholders” in autism research. Research directions are posed as questions requiring answers and range from “When should I be concerned?” through “What caused this to happen and can it be prevented?” and “Where can I turn for services?” The questions serve as Inhibitors,research,lifescience,medical organizing points for a wide variety of research studies, with exciting
developments in many of these areas. We focus here on research into the etiology and treatment of autism, as these areas have demonstrated the most interest and promise in recent years. The etiology of ASD is generally believed to involve a complex learn more interaction of genetic abnormalities and environmental forces. The impact of environmental factors is suggested to be modified by the timing of the exposure,8 Inhibitors,research,lifescience,medical such that individuals might be “protected” Inhibitors,research,lifescience,medical against an environmental hazard, if they have already passed through the developmentally sensitive period of risk. Conversely, exposures during the vulnerable period might have greater “epistatic” impact on individuals with a genetic predisposition to ASD.9 The complex interaction of genes, environment, and developmental sensitivities has
made research into the etiology of ASD more complex than that of other disorders. Genetic abnormalities can currently be detected in a small, but significant fraction Inhibitors,research,lifescience,medical of individuals with ASD. The percentage of gene-related cases will likely increase as gene sequencing technology advances10 and the number of genes associated with autism moves into crotamiton the hundreds.11 Specific genetic defects are often noted in ASD, such as copy number variations in 16p.11.2 and 15q13.2q13.3.12 In addition, several well-known genetic disorders may present with symptoms of autism. Two such examples are tuberous sclerosis (TSC) and Fragile X. Recent work has shown that the signaling pathways that are mechanistic in these disorders may both relate to metabotropic glutamate receptor 5 (MGLUR), but in opposite directions. That is, MGLUR signaling may be reduced in TSC and increased in Fragile X, and researchers have proposed that augmentation should alleviate symptoms in TSC, while inhibition may be beneficial in Fragile X.