Mechanisms and Therapeutics in Autism: From Genes to Clinical Practice
A Special Issue of Genes (ISSN 2073-4425) belonging to the section "Neurogenomics".
Deadline for manuscript submissions: 20 September 2026 | Viewed by 247
Editor
Special Issue Information
Dear Colleagues,
Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental disorder defined by persistent impairments in social communication and interaction, together with restricted and repetitive patterns of behavior. The complexity of ASD extends far beyond its core clinical features, encompassing diverse genetic architectures, pathogenic mechanisms, and a wide range of comorbidities. This multifaceted nature makes ASD a valuable model for integrative genetic and molecular research.
Genetic factors play a central role in ASD, within a model that integrates common polygenic variation and rare, high-impact genetic alterations. Approximately one quarter of individuals with ASD have an identifiable genetic etiology, including copy number variations and pathogenic gene mutations. These alterations converge on key biological pathways involved in synaptic development, neuronal signaling, chromatin remodeling, and activity-dependent gene regulation. Epigenetic mechanisms further modulate gene expression during critical early periods of brain development, contributing to the marked phenotypic variability observed across the autism spectrum.
ASD pathogenesis is increasingly understood as a disruption of neurodevelopmental trajectories rather than a single molecular defect. Altered neuronal connectivity, imbalance between excitatory and inhibitory signaling, immune dysregulation, inflammation, and metabolic pathway abnormalities have been identified in distinct ASD subgroups. These mechanisms may also underlie the high prevalence of comorbidities, including epilepsy, intellectual disability, attention-deficit/hyperactivity disorder, anxiety, sleep disturbances, and gastrointestinal symptoms.
Despite major advances in genetics and molecular neuroscience, no disease-modifying treatment for ASD currently exists. Clinical management remains individualized, emphasizing early behavioral interventions and targeted treatment of comorbid conditions. A deeper understanding of the genetic and biological basis of ASD is essential for biomarker discovery, patient stratification, and the development of personalized therapeutic strategies. This Special Issue of Genes aims to bring together original research and comprehensive reviews addressing the genetic foundations, pathogenesis, and comorbidities of ASD, fostering translational insights that bridge molecular genetics and clinical practice.
Dr. Iliyana Pacheva
Guest Editor
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Keywords
- autism
- autistic spectrum disorder
- epilepsy and autism
- pathogenesis
- mitochondrial dysfunction
- inflammation
- genes and autism
- comorbidities
- biomarkers
- precise medicine
- treatment
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