Integrating Human Genetics, Functional Genomics, and Model Systems to Illuminate the Etiology of ASD

Gene discovery via next generation sequencing is paramount to understanding the underlying biology of autism spectrum disorder (ASD). However, interpretation of genetic variation is confounded by the heterogeneity of ASD, as well as the difficulty understanding the functional role of non-coding regions. This panel outlines a paradigm for translating findings from whole-exome and whole-genome sequencing to testable hypotheses of ASD neurobiology. In the first talk, recent findings from whole-exome and whole-genome sequencing studies are presented with an emphasis on using maps of regulatory regions to interpret non-coding variation. Next, specific chromatin modifiers, associated with ASD risk via these DNA sequencing studies, are investigated with ChIP-seq in order to build regulatory networks that may be perturbed in ASD. The third talk in this panel uses a novel framework to integrate the data from the first two talks with gene expression data from the developing human brain in order to increase our power to detect genes associated with ASD. Finally, in the fourth talk, we highlight recent efforts to translate genetic findings to functional biology and pharmacological screening using zebrafish as a model system.
Friday, May 15, 2015: 3:30 PM-5:30 PM
Grand Ballroom A (Grand America Hotel)
Panel Chair:
M. W. State
3:30 PM
Whole-Genome Sequencing in ASD Quartets and Integration with Regulatory Elements Active during Human Brain Development
A. J. Willsey S. Reilly M. Walker R. A. Muhle J. Cotney S. J. Sanders B. Devlin K. Roeder N. Sestan J. Noonan M. W. State
4:00 PM
Chromatin Remodelers in Autism: Deciphering Regulatory Networks That Contribute to Autism Risk
J. Cotney R. A. Muhle S. J. Sanders L. Liu A. J. Willsey W. Niu W. Liu L. Klei J. Lei J. Yin S. Reilly A. Tebbenkamp C. Bichsel M. Pletikos N. Sestan K. Roeder M. W. State B. Devlin J. Noonan
4:30 PM
Gene Expression, Regulatory Elements and Rare Sequence Variation Identify Genes and Subnetworks Underlying Autism Risk
A. E. Cicek L. Liu S. J. Sanders A. J. Willsey J. Cotney R. A. Muhle N. Sestan J. Noonan M. W. State B. Devlin K. Roeder
5:00 PM
Zebrafish Mutants of the Autism Risk Gene Cntnap2 Identify Gabaergic Defects and Estrogens As Phenotypic Suppressors
E. J. Hoffman K. J. Turner J. M. Fernandez S. W. Wilson J. Rihel M. W. State A. J. Giraldez
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