Autism spectrum disorders: from genes to neurobiology
Open accessAbstract
Advances in genome-wide technology, coupled with the availability of large cohorts, are finally yielding a steady stream of autism spectrum disorder (ASD) genes carrying mutations of large effect. These findings represent important molecular clues, but at the same time present notable challenges to traditional strategies for moving from genes to neurobiology. A remarkable degree of genetic heterogeneity, the biological pleiotropy of ASD genes, and the tremendous complexity of the human brain are prompting the development of new strategies for translating genetic discoveries into therapeutic targets. Recent developments in systems biology approaches that 'contextualize' these genetic findings along spatial, temporal, and cellular axes of human brain development are beginning to bridge the gap between high-throughput gene discovery and testable pathophysiological hypotheses.
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Many of the genes whose pathological variation confers susceptibility to psychiatric disorders play fundamental roles in brain development.
“and indeed many of the genes whose pathological variation confers susceptibility to psychiatric disorders play fundamental roles in brain development 7-9 .”
From Developmental timing and critical windows for the treatment of psychiatric disorders (2016) · cites this paper as [8]
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Falkovich, R., Aryal, S., Sheng, M., & Bathe, M. (2024) · doi:10.1101/2024.10.28.620504 · Cited by 2 · see citing works
- Authors
- Jeremy Willsey, A., & State, M. W.
- Affiliations
- University of California, San Francisco (US)
- Corresponding author
- State, Matthew W
- ORCID
- State, Matthew W
- Venue
- Current Opinion in Neurobiology
- Publisher
- Elsevier BV
- Published
- 2015-02
- Volume
- 30
- Pages
- 92-99
- ISSN
- 0959-4388 (ISSN-L)
- PMC
- PMC4586254
- OpenAlex
- W1976222552
- Cited by
- 145
- References
- 18
- Citations by year
- 2026: 5 · 2025: 2 · 2024: 10 · 2023: 6 · 2022: 14 · 2021: 7 · 2020: 16 · 2019: 15 · 2018: 14 · 2017: 12 · 2016: 29 · 2015: 14 · 2014: 1
- FWCI
- 1.76
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Current Opinion in Neurobiology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- Funders
- National Institute of Mental Health (RC2 MH089956)
- Simons Foundation
- Overlook International Foundation
- Canadian Institutes of Health Research
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- autism spectrum disorder, asd gene, genetic heterogeneity, pleiotropy, therapeutic target, systems biology, human brain development
- MeSH terms
- Brain, Child Development Disorders, Pervasive, Humans, Neurobiology, Genetic Predisposition to Disease
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