Topic: Genetic and Molecular Mechanisms of Neuromuscular Disorders

Neuromuscular disorders encompass a diverse group of conditions that affect the function of muscles and the nerves controlling them. These disorders, ranging from muscular dystrophies and motor neuron diseases to congenital myopathies and neuromuscular junction disorders, often arise due to genetic mutations and complex molecular mechanisms. Advances in genetics, genomics, and molecular biology have significantly deepened our understanding of disease pathogenesis, paving the way for novel diagnostic and therapeutic strategies.

In this Special Issue, we aim to highlight cutting-edge research on the genetic and molecular mechanisms underlying neuromuscular disorders. By integrating insights from genomics, transcriptomics, proteomics, and advanced disease models, we seek to foster a comprehensive understanding of disease progression and identify potential therapeutic targets.

Topics of interest include, but are not limited to:

● Genetic basis of neuromuscular disorders: Identification and characterization of disease-causing mutations, structural variations, and epigenetic modifications.

● Molecular pathways in disease pathogenesis: Investigation of key signaling pathways, RNA dysregulation, mitochondrial dysfunction, and protein homeostasis in neuromuscular diseases.

● Gene therapy and genome editing: Advances in CRISPR, AAV-mediated gene therapy, antisense oligonucleotides, and RNA-targeted therapies for neuromuscular disorders.

● Translational approaches and targeted therapies: Development of small molecules, biologics, and cell-based therapies for disease modification and symptom management.

● Modeling neuromuscular diseases: Insights from patient-derived iPSCs, organoid systems, and animal models in understanding disease mechanisms and evaluating therapeutic strategies.

● Neuromuscular junction and motor neuron degeneration: Mechanisms underlying synaptic dysfunction, axonal transport defects, and neuroinflammatory responses in disorders such as ALS and SMA.

● Biomarkers and precision medicine: Identification of genetic, transcriptomic, and proteomic biomarkers for early diagnosis, disease progression monitoring, and personalized treatment strategies.

● Emerging technologies and omics approaches: Applications of single-cell sequencing, spatial transcriptomics, and multi-omics in unraveling neuromuscular disease complexity.

● Ethical and regulatory considerations: Challenges in gene therapy applications, clinical trial design, and patient access to emerging therapeutics.

We invite original research articles, reviews, and perspectives that provide novel insights into the genetic and molecular underpinnings of neuromuscular disorders. This Special Issue aims to bridge the gap between fundamental research and clinical application, ultimately advancing precision medicine approaches for these debilitating conditions.

Neuromuscular disorders, genetics, molecular mechanisms, muscular dystrophy, motor neuron diseases, gene therapy, RNA-targeted therapy, biomarker discovery, precision medicine