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Nat Med. 2016 Apr;22(4):345-61. doi: 10.1038/nm.4071.

Advancing the understanding of autism disease mechanisms through genetics.

Author information

1
Neurogenetics Program, Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
2
Center For Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
3
Department of Genetics, University of North Carolina (UNC), Chapel Hill, North Carolina, USA.
4
UNC Neuroscience Center, University of North Carolina, Chapel Hill, North Carolina, USA.

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.

PMID:
27050589
PMCID:
PMC5072455
DOI:
10.1038/nm.4071
[Indexed for MEDLINE]
Free PMC Article

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