Autism: Genetics, Environment, Pathogenesis, and Treatment

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Neurogenomics".

Deadline for manuscript submissions: 10 July 2026 | Viewed by 512

Special Issue Editor


E-Mail Website
Guest Editor
National Research Council, Institute for Biomedical Technologies, 20054 Segrate, Italy
Interests: molecular biology; genetics, multi-omics, autism spectrum disorders
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Autism Spectrum Disorders (ASDs) comprise a heterogeneous group of neurodevelopmental conditions characterized by persistent impairments in social interaction and communication, restricted interests, and repetitive behaviors. ASD affects approximately 1% of the global population, with different functional abilities and support needs: some autistic individuals can live independently; others require lifelong assistance, with a substantial impact on families and healthcare systems.

ASD causes are not fully understood and no cure is currently available. ASD is recognized as a multifactorial condition arising from complex interactions between genetic susceptibility and environmental influences. To date, hundreds of genetic risk factors have been identified, alongside environmental contributors such as advanced parental age, perinatal complications, exposure to environmental pollutants, and alterations in the gut microbiota. However, the pathophysiological mechanisms linking these factors to ASD remain largely unresolved.

We therefore encourage the submission of original research articles that leverage recent advances in multi-omics technologies, animal and organoid models, ASD data repository, and state-of-the-art statistical, bioinformatic, and AI approaches to address the complexity of this multifactorial disorder. Studies aimed at identifying novel biomarkers and pathogenic pathways are particularly welcome, as they may pave the way for early diagnosis, personalized therapies, and ultimately improved prevention and treatment of ASD.

Dr. Alessandra Mezzelani
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Autism Spectrum Disorders (ASDs)
  • pathogenesis
  • genetic factors
  • environmental factors
  • epigenetics
  • gut microbiota
  • animal models
  • organoid models
  • multi-omics
  • bioinformatics
  • biostatistics
  • biomarkers
  • diagnosis
  • patient stratification
  • personalized interventions

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

Further information on MDPI's Special Issue policies can be found here.

Published Papers (1 paper)

Order results
Result details
Select all
Export citation of selected articles as:

Research

20 pages, 2395 KB  
Article
Inference of Autism Risk Genes Through Comparative Sociogenomics and Molecular Network Analysis
by Alice Chiodi, Ettore Mosca, Francesca Anna Cupaioli and Alessandra Mezzelani
Genes 2026, 17(4), 368; https://doi.org/10.3390/genes17040368 - 25 Mar 2026
Viewed by 248
Abstract
Background/Objectives: Comparative sociogenomics combines multiple scientific fields to investigate the genetic basis of social behavior across species. Our aim was to uncover the genetic roots of human sociability with possible implications for autism, a neurodevelopmental disorder characterized by social and communication deficits. Methods: [...] Read more.
Background/Objectives: Comparative sociogenomics combines multiple scientific fields to investigate the genetic basis of social behavior across species. Our aim was to uncover the genetic roots of human sociability with possible implications for autism, a neurodevelopmental disorder characterized by social and communication deficits. Methods: We conducted molecular network analysis on 659 sociability-related genes from different animal species, including humans. Results: We identified a network of 240 genes strongly associated with autism (p < 10−15), with 194 inferred. These genes were grouped into 23 functional communities related to cell–cell junctions and communication, inflammatory and synaptic signaling, neurotransmitter receptors and semaphorin signaling among the more enriched meta-pathways. Some network genes were clustered in nine chromosomal bands (FDR < 0.25), indicating genes’ functional cooperation, shared evolutionary history, and coordinated regulation, and few genes are physically in linkage with ASD genes (within 0.5 cM) or controlled by human-accelerated regions. Conclusions: The most compelling inferred autism risk genes are MED12, FZD9, and DMD since they are differentially expressed in autistic brains, physically linked to key autism genes, controlled by human-accelerated regions, or mapped to chromosomal regions enriched in network genes. If validated, they could represent novel biomarkers, advancing the understanding of autism’s genetic makeup. Full article
(This article belongs to the Special Issue Autism: Genetics, Environment, Pathogenesis, and Treatment)
Show Figures

Figure 1

Back to TopTop