title: Advancing the understanding of autism disease mechanisms through genetics.
abstract: Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has fueled remarkable advances in our understanding of its potential neurobiological mechanisms. Yet, at the same time, these findings highlight extraordinary causal diversity and complexity at many levels ranging from molecules to circuits and emphasize the gaps in our current knowledge. Here we review current understanding of the genetic architecture of ASD and integrate genetic evidence, neuropathology and studies in model systems with how they inform mechanistic models of ASD pathophysiology. Despite the challenges, these advances provide a solid foundation for the development of rational, targeted molecular therapies.
authors.affiliation: Neurogenetics Program, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.|Center For Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
authors.forename: Luis
authors.initials: L
authors.lastname: de la Torre-Ubieta
authors.affiliation: Neurogenetics Program, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.|Center For Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
authors.forename: Hyejung
authors.initials: H
authors.lastname: Won
authors.affiliation: Neurogenetics Program, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.|Center For Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.|Department of Genetics, University of North Carolina (UNC), Chapel Hill, North Carolina, USA.|UNC Neuroscience Center, University of North Carolina, Chapel Hill, North Carolina, USA.
authors.forename: Jason L
authors.initials: JL
authors.lastname: Stein
authors.affiliation: Neurogenetics Program, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.|Center For Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
authors.forename: Daniel H
authors.initials: DH
authors.lastname: Geschwind
mesh_terms: D000818:Animals; D000067877:Autism Spectrum Disorder / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D002659:Child Development Disorders, Pervasive / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D004195:Disease Models, Animal; D020022:Genetic Predisposition to Disease; D006801:Humans; D058990:Molecular Targeted Therapy