Associate Member, Broad Institute
On January 30, 2019, Elise Robinson provided an overview of the role that genetic factors play in autism spectrum disorders and discussed the next steps to further understand autism genetics.
On December 12, 2018, Pawan Sinha and Dagmar Sternad reviewed a recently proposed hypothesis about the nature of autism spectrum disorders (ASD) that posits that the common traits of the disorder are manifestations of an individual’s difficulty in making predictions about cause and effect.
On November 28, 2018, André Fenton discussed work with mouse genetic models of fragile X syndrome (FXS) – the most common single-gene cause of autism spectrum disorder (ASD) symptoms – and focused on the utility of such models to evaluate hypotheses for understanding ASD. He evaluated distinct hypotheses by assessing synapse function and the action potential discharge of knowledge-expressing hippocampus “place cells” during behaviors that require varying cognitive effort.
Child Neurologist and Senior Clinician Scientist, Holland Bloorview Kids Rehabilitation Hospital
Associate Professor, Department of Pediatrics, University of Toronto
On September 26, 2018, Evdokia Anagnostou discussed the challenge of rethinking classification systems and diagnostic labels for autism and related neurodevelopmental disorders in light of recent findings from research and clinical studies.
On April 10, 2018, Matthew State reviewed the progress that has been made in autism genetics over the past 10 years and the role that the Simons Simplex Collection (SSC) played in this (r)evolution. He also addressed the potential contribution of ongoing genomic studies including whole-genome sequencing as well as the challenges and opportunities of leveraging the genetic findings to identify pathophysiological mechanisms.
On 7 February 2018, Shafali Spurling Jeste provided a topical overview of the current state of research in autism biomarkers. She shared data from studies of autism biomarkers in three key areas: early risk prediction (studies of high-risk infants), heterogeneity within the autism spectrum and genetically defined subgroups within autism. Finally, she discussed the challenges around clinical trial design and development and considered how more objective measures of brain function can improve clinical trials.