Recent gene discovery efforts focusing on de novo variation have rapidly expanded the number of genes and loci reliably associated with ASD. However, locus heterogeneity and biological pleiotropy have complicated the effort to clarify the neurobiology of ASD. Still, multiple lines of evidence suggest that the large number of risk genes will converge on a smaller number of pathophysiological mechanisms. Importantly, emerging maps of gene expression in the developing brain and the ability to generate similar datasets for gene regulatory interactions provide a powerful and novel means to identify points of mechanistic convergence for novel ASD genes within a developmentally-relevant framework. The proposed panel will describe an ongoing multi-disciplinary collaboration aimed at clarifying molecular and circuit level pathology in ASD. Included are presentations on: 1) New data from ongoing whole-exome sequencing studies of the Simons Simplex Collection; 2) expression analyses of ASD loci in the developing brain; 3) ChIP-seq studies of ASD genes involved in epigenetic regulation; and 4) a paradigm for integrating these data to clarify ASD pathology. This collaborative approach offers a path forward from unbiased gene discovery to the illumination of convergent molecular mechanisms underlying ASD.
Friday, 3 May 2013: 17:30-18:30
Meeting Room 1-2 (Kursaal Centre)
M. W. State
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