Advancing the understanding of autism disease mechanisms through genetics

Luis De La Torre-Ubieta, Hyejung Won, Jason L. Stein, Daniel H. Geschwind

Research output: Contribution to journalReview articlepeer-review

559 Scopus citations


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.

Original languageEnglish
Pages (from-to)345-361
Number of pages17
JournalNature Medicine
Issue number4
StatePublished - 6 Apr 2016
Externally publishedYes


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