Advancing the understanding of autism disease mechanisms through genetics

By Luis de la Torre-Ubieta, H. Won, Jason L. Stein, Daniel H. Geschwind. Nature Medicine, 2016

765 citations recorded by the source corpus.

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.

Subfields: Cognitive Neuroscience, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/a9f29d6ab53873fd50b1e65e64cd36d9447c1a9d

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Citations in the corpus

Human Gut Microbiota from Autism Spectrum Disorder Promote Behavioral Symptoms in Mice (2019, background): “…genetic research has highlighted the importance of de novo mutations, copy number variations, and rare and common variants in ASD etiology (An et al., 2018; Gandal et al., 2018; Sanders et al., 2015; de la Torre-Ubieta et al., 2016), many of which have been modeled in animals (Patel et al., 2018).”
The Changing Epidemiology of Autism Spectrum Disorders (2016, background): “, polygenic risk, is now being recognized as an important indicator of risk for ASD as well as for other psychiatric disorders (47, 65).”
Network neuroscience (2017, background): “Here, network interactions offer important insights into the biological mechanisms associated with several common brain disorders, including schizophrenia 41 and autism 42 .”
Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism (2016, neutral): “In this regard, it is notable that the observed transcriptome changes are consistent with an ongoing process that is triggered largely by genetic and prenatal factors 3,9,10,23 , but that evolves during the first decade of brain development.”