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Related Concept Videos

Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.

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Related Experiment Video

Updated: Jul 9, 2026

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism
08:44

Dynamic Clamp Methods to Investigate Impaired Neuronal Excitability Associated with Autism

Published on: October 17, 2025

Integrative functional genomics maps synaptic and developmental-regulatory autism risk-gene sets across human cortex.

Aojie Lian1,2, Qiong Wang3, Mei He3

  • 1NHC Key Laboratory of Birth Defect for Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, 410028, China. aojielian@gmail.com.

Functional & Integrative Genomics
|July 8, 2026
PubMed
Summary

Autism risk genes impact adult brain synapses and prenatal development differently. Synaptic gene functions are linked to autism in adults, while developmental genes are key during early fetal stages.

Keywords:
Autism spectrum disorderCortical developmentFunctional genomicsGene-set analysisIntegrative genomicsNetwork analysisSingle-cell transcriptomicsSynaptic biology

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Last Updated: Jul 9, 2026

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Autism spectrum disorder (ASD) risk genes are implicated in synaptic and developmental biology.
  • The functional relevance of these gene sets may differ between prenatal and adult cortical development.

Purpose of the Study:

  • To investigate whether predefined autism spectrum disorder (ASD) risk gene sets maintain consistent functional meaning across prenatal and adult cortical contexts.
  • To define distinct biological layers associated with ASD risk genes in prenatal and adult brain development.

Main Methods:

  • Analysis of predefined ASD risk gene sets using developmental and adult transcriptomics data (BrainSpan, single-cell, bulk cohorts).
  • Integration with functional annotations (SynGO, Reactome) and interaction networks (STRING).
  • Application of advanced statistical modeling, including donor-aware and composition-aware approaches, alongside various control analyses.

Main Results:

  • The broad SFARI gene set showed a significant association with adult cortical ASD-control differences, primarily driven by its synaptic component (SynGO).
  • This adult synaptic signal remained robust across multiple stringent statistical models and sensitivity analyses.
  • In contrast, a mid-prenatal subset of SFARI genes localized to fetal progenitor and chromatin-regulatory functions, lacking a stable adult cortical association.

Conclusions:

  • Predefined ASD risk gene sets reveal distinct functional layers: a synaptic layer associated with adult cortical ASD, and a developmental-regulatory layer prominent in mid-prenatal stages.
  • These findings highlight the dynamic nature of ASD risk gene function across different developmental time points and brain contexts.