Alternative Splicing in RNA Metabolism, Tissue Homeostasis and Human Disease: From Mechanisms to Therapeutics and Clinical Applications

Dear Colleagues,

Alternative splicing is a fundamental post-transcriptional mechanism that expands proteomic diversity and enables precise control of gene expression across tissues and developmental stages. Through the coordinated action of spliceosomal components, RNA-binding proteins, and regulatory cis-elements, alternative splicing shapes RNA maturation, cellular identity, and tissue homeostasis. Dysregulation of splicing regulation—whether caused by mutations, altered expression of splicing factors, or changes in cellular signaling—are known as major contributors to human diseases, including cancer, neurodegenerative disorders, muscular dystrophies, and hematologic pathologies. Advances in transcriptomics, structural biology, and genome engineering have deepened our understanding of splicing mechanisms and uncovered novel therapeutic opportunities. These include antisense oligonucleotides, small-molecule splicing modulators, and targeted correction of pathogenic splice variants. This Topic aims to highlight the progress from mechanistic insights to translational strategies, capturing how splicing-based interventions will shape the next generation of precision medicine.

Dr. Christos K. Kontos
Dr. Dongyu Jia
Topic Editors