Each year, more candidate compounds for the treatment of autism spectrum disorder (ASD) are being explored. Recent findings in mouse models have particularly heightened excitement about potential treatments, with pharmaceutical interventions rescuing core behavioral, electrophysiological and molecular deficits in multiple mouse models of neurodevelopmental disease. A key discovery came from studies of a Rett syndrome mouse model — mice in which the MeCP2 gene is nonfunctional — that demonstrated that neurodevelopmental deficits can be genetically rescued even after critical developmental time windows have passed[ref]Guy J. et al. Science 315, 1143-1147 (2007) PubMed[/ref], [ref]Robinson L. et al. Brain 135, 2699-2710 (2012) PubMed[/ref]. These results give hope that individuals with neurodevelopmental disorders need not be treated very early in their time-course to gain some benefit from an effective therapy. We are, however, still missing a general understanding of what specific deficits can be rescued, and how quickly, in ASD and related neurodevelopmental disorders.
Autism spectrum disorder (ASD), affecting 1 in 68 children in the U.S., is a significant unresolved public health concern. The clinical presentations of ASD can be quite broad, and recent evidence points to many different genetic causes. This heterogeneity could lead to a scientific and clinical impasse; each cause of ASD has its own disrupted mechanisms and requires its own unique treatment. However, a more optimistic interpretation, for which there is now accumulating evidence, is that many different primary causes of ASD actually converge on a limited subset of biochemical pathways in nerve cells that mediate cell growth and function. Demonstrating that such a mechanistic convergence exists would be a significant step forward for the field.
The chromosomal region 16p11.2, which spans about 29 genes, is strongly linked to autism. On 27 April, SFARI hosted a workshop to discuss the consequences of duplications or deletions of this region.
New collaboration will collect critically needed brain tissue for autism research
Converging lines of evidence suggest that the earliest events in brain development play a role in autism. On 12 September, the Simons Foundation Autism Research Initiative brought together a group of scientists to discuss the latest findings on early brain development’s relevance to autism, based on studies ranging from structural imaging in children to analysis of postmortem brains and mouse models.
Researchers can use biomarkers to diagnose individuals with autism and to hone in on the underlying causes of the disorder. In July, SFARI held an informal meeting of minds at Stony Brook University to discuss biomarkers for autism.
Simons Foundation and Autism Speaks have entered into an agreement with the National Institutes of Health to align two of the world’s largest repositories of donated postmortem brain tissue for medical research: Autism BrainNet and the NIH NeuroBioBank.
In this blog post, the SFARI science team provides insight into SFARI’s scientific priorities. A number of experimental design issues to consider when preparing a grant application in response to the 2017 Pilot and Research Awards RFA are also discussed.
Preliminary studies suggest that the so-called ‘love hormone’ oxytocin could improve some of the social deficits characteristic of people with autism. On 11 April, SFARI hosted a workshop to explore oxytocin’s relationship to social behavior and its potential as a therapy for autism.
Grainne McAlonan plans to use brain imaging methods and out-of-scanner measures to assess responses to arbaclofen, a GABAB receptor agonist, in adults with and without autism spectrum disorder.
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