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Advancing the understanding of autism disease mechanisms through genetics

2016; Nature Portfolio; Volume: 22; Issue: 4 Linguagem: Inglês

10.1038/nm.4071

1546-170X

Luis de la Torre-Ubieta, Hyejung Won, Jason L. Stein, Daniel H. Geschwind,

Genomics and Chromatin Dynamics

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.