Genetic Profiling and Molecular Analysis in Autism Spectrum Disorders
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 5 March 2026 | Viewed by 41
Special Issue Editor
Interests: autism spectrum disorder; genetic profiling; neurodevelopmental disorders; molecular pathways; calcium signaling; de novo mutations; chromatin remodeling; synaptic genes; gene–environment interactions; precision medicine
Special Issue Information
Dear Colleagues,
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with a heterogeneous genetic and molecular architecture. Advances in next-generation sequencing and systems biology have uncovered a wide range of genetic variants—from rare de novo mutations to common polygenic risk factors—that contribute to ASD susceptibility and phenotypic diversity. These genetic alterations intersect with molecular pathways involved in synaptic function, calcium signaling, chromatin remodeling, transcription factors, immune regulation, and metabolic homeostasis. Importantly, both monogenic and polygenic mechanisms converge on shared neurodevelopmental and rapidly evolving HAR-associated processes, offering new opportunities for early diagnosis and targeted therapeutic development.
This Special Issue aims to explore the expanding landscape of genetic profiling and molecular analysis in ASD, encompassing both basic research and translational applications. We welcome original research articles, reviews, and perspectives that address genetic diagnostics, single-cell omics, functional validation of ASD-associated variants, genotype–phenotype correlations, and systems-level integration of molecular data. Contributions that examine sex differences, gene–environment interactions, or novel therapeutic targets are particularly encouraged.
By bringing together diverse approaches in genomics, bioinformatics, and molecular neuroscience, this Special Issue seeks to advance our understanding of ASD etiology and support the development of precision medicine strategies for individuals across the autism spectrum.
Prof. Dr. John Jay Gargus
Guest Editor
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Keywords
- whole-exome and genome sequencing in ASD
- functional genomics of high-confidence ASD risk genes
- transcriptomics and splicing variants in the autistic brain
- calcium signaling and ion channelopathies
- chromatin and epigenetic dysregulation in ASD
- mitochondrial dysfunction and oxidative stress
- immune–neural signaling cross-talk
- systemic extracerebral traits associated with ASD
- stratification of ASD subtypes
- sex-biased molecular mechanisms in ASD
- integrative omics for therapeutic target discovery
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