Cell Type and Isoform-Specific Mechanisms in Neurological, Neurodegenerative, and Neurodevelopmental Disorders

Neurogenetic disorders are characterized by extraordinary molecular and cellular complexity. Alternative splicing and isoform regulation shape the proteome of the human brain, while cell type–specific gene expression programs define neuronal identity and vulnerability. Disruption of these finely tuned processes has been implicated in conditions ranging from autism spectrum disorder and intellectual disability to Alzheimer’s and Parkinson’s disease. However, conventional bulk transcriptomics often masks these nuanced effects, limiting our ability to link genetic variation to functional mechanisms. Advances in single-cell, spatial, and long-read technologies now offer unprecedented resolution to interrogate isoform- and cell type–specific regulation in disease-relevant contexts.The goal of this Research Topic is to address the gap in our understanding of how isoform- and cell type–specific regulation contributes to the etiology of neurological, neurodevelopmental, and neurodegenerative disorders. We aim to curate a collection of cutting-edge research that investigates transcriptomic diversity using bulk, single-cell, spatial, and long-read sequencing approaches. We envision contributions that not only reveal novel disease-associated isoforms and regulatory mechanisms but also demonstrate how isoform-level and cell type–specific insights can inform therapeutic development and precision medicine.We welcome original research, methods papers, and reviews covering: Isoform diversity and alternative splicing in the brain; Cell type–specific transcriptomics in health and disease; Single-cell and spatial transcriptomic approaches; Long-read sequencing applications in isoform resolution; Functional studies linking isoform specificity to neuronal biology; Computational and AI-driven approaches for isoform discovery and interpretation; Translational insights into diagnostics or therapeutics. Contributors may submit original research articles, brief research reports, reviews, methods papers, and perspectives. Topic editors: Ricardo Harripaul, Mina Zamani Source: https://www.frontiersin.org/research-topics/77398/cell-type-and-isoform-specific-mechanisms-in-neurological-neurodegenerative-and-neurodevelopmental-disorders