Autism Spectrum Disorder: From Bench to Molecular Mechanisms
A Special Issue of Biology (ISSN 2079-7737) belonging to the section "Neuroscience".
Deadline for manuscript submissions: 31 January 2027 | Viewed by 1264
Editor
Interests: molecular autism
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Autism Spectrum Disorder is a complex neurobiological condition that affects approximately 1 in 31 children as of 2026. While traditionally defined by behavioral markers—such as challenges in social communication and restricted, repetitive patterns of behavior—modern research has shifted toward a "biologically anchored" framework that seeks to link these outward traits to their internal molecular origins. Autism Spectrum Disorder: From Bench to Molecular Mechanisms serves as a comprehensive guide to this evolving landscape, bridging the gap between basic laboratory research and the clinical reality of the disorder.
As of early 2026, the field has reached a transformative inflection point. Recent breakthroughs have expanded the catalog of known autism-risk genes from a handful to over 2,500, identifying four distinct biological subtypes that align specific genetic profiles with clinical presentations. This Special Issue explores these "points of biological convergence," including:
- Synaptopathy and Circuitry: How alterations in synaptic proteins and neural circuits—such as the Wnt and mTOR pathways—disturb the excitatory-inhibitory balance of the brain.
- Genetic Heterogeneity: The role of rare variants, polygenic load and X-linked gene expression in shaping individual neurodevelopmental trajectories.
- Systemic Interactions: New evidence linking Autism Spectrum Disorder to gut-microbe imbalances and neuroimmune dysregulation, providing a "brain-body" perspective on the disorder.
- Translational Advances: The use of organoid "mini-brains" and CRISPR-Cas9 technology to model human development and test personalized therapeutic targets, such as the reticular thalamic nucleus.
By synthesizing the latest data from large-scale genomic studies and multi-tiered research approaches, this issue provides investigators, clinicians and students with the necessary tools to understand Autism Spectrum Disorder not just as a set of symptoms, but as a diverse spectrum of precisely defined molecular mechanisms.
Dr. Dario Siniscalco
Guest Editor
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Keywords
- autism spectrum disorder
- epigenetics
- synaptic circuitry
- gene regulation
- microbiome
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