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Advancing the understanding of autism disease mechanisms through genetics

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... Full description

Journal Title: Nature medicine 2016, Vol.22 (4), p.345-361
Main Author: de la Torre-Ubieta, Luis
Other Authors: Won, Hyejung , Stein, Jason L , Geschwind, Daniel H
Format: Electronic Article Electronic Article
Language: English
Subjects:
Publisher: United States: Nature Publishing Group
ID: ISSN: 1078-8956
Link: https://www.ncbi.nlm.nih.gov/pubmed/27050589
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title: Advancing the understanding of autism disease mechanisms through genetics
format: Article
creator:
  • de la Torre-Ubieta, Luis
  • Won, Hyejung
  • Stein, Jason L
  • Geschwind, Daniel H
subjects:
  • Animal
  • Animals
  • Article
  • Autism
  • Autism Spectrum Disorder
  • Autism Spectrum Disorder - genetics
  • Autism Spectrum Disorder - pathology
  • Autism Spectrum Disorder - therapy
  • Child Development Disorders
  • Child Development Disorders, Pervasive - genetics
  • Child Development Disorders, Pervasive - pathology
  • Child Development Disorders, Pervasive - therapy
  • Development and progression
  • Disease Models
  • Disease Models, Animal
  • Genetic aspects
  • Genetic Predisposition to Disease
  • Genetic research
  • Genetic susceptibility
  • Genomics
  • Health Sciences
  • Humans
  • Immunology
  • Medical
  • mental disorders
  • Molecular Targeted Therapy
  • Pathology
  • Pervasive
  • Pervasive developmental disorders
ispartof: Nature medicine, 2016, Vol.22 (4), p.345-361
description: 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.
language: eng
source:
identifier: ISSN: 1078-8956
fulltext: no_fulltext
issn:
  • 1078-8956
  • 1546-170X
url: Link


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descriptionProgress 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.
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subjectAnimal ; Animals ; Article ; Autism ; Autism Spectrum Disorder ; Autism Spectrum Disorder - genetics ; Autism Spectrum Disorder - pathology ; Autism Spectrum Disorder - therapy ; Child Development Disorders ; Child Development Disorders, Pervasive - genetics ; Child Development Disorders, Pervasive - pathology ; Child Development Disorders, Pervasive - therapy ; Development and progression ; Disease Models ; Disease Models, Animal ; Genetic aspects ; Genetic Predisposition to Disease ; Genetic research ; Genetic susceptibility ; Genomics ; Health Sciences ; Humans ; Immunology ; Medical ; mental disorders ; Molecular Targeted Therapy ; Pathology ; Pervasive ; Pervasive developmental disorders
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abstractProgress 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.
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