Genome and Transcriptome Editing to Understand and Treat Neuromuscular Diseases

Muscular dystrophies and other neuromuscular disorders are diseases characterized by muscle weakness and wasting that result from defects in the muscle itself, or from neuromuscular junctions that innervate those muscles. In many of these diseases, there are promising therapeutics that are currently in pre-clinical or clinical trials that utilize genome or transcriptome editing to restore a deficient protein, to reduce a toxic protein, or to alter or skip over a missense or nonsense mutation. Collectively these precision medicine advances have the potential to completely change the landscape of neuromuscular disease therapeutics. Furthermore, these techniques have become increasingly important in the creation of new neuromuscular disease animal models or in discovering how either the overexpression or the absence of other proteins/mRNAs/miRNAs might alter disease severity. The continuing development and application of genome editing will provide therapeutic and mechanistic insight into neuromuscular disease and improve the current technology where drug delivery and gene expression remain sub-optimal.

We welcome researchers in the field to submit original research and review articles to this Research Topic. This article collection will focus on the umbrella of approaches that aim to alter cell/tissue/whole animal genetics: 1) to understand the molecular biology and pathophysiology of neuromuscular disease, or 2) to therapeutically rescue or reduce protein/gene expression to improve disease severity. Genome/transcriptome editing examples include (but are not limited to) techniques such as CRISPR/Cas/cpf1 systems, TALEN, and Zinc-finger nucleases (ZFNs), RNA editing, base editing, prime editing, AAV9 gene delivery, antisense oligonucleotide delivery, and translational readthrough. The overall aim of this Research Topic is to host original research and review papers on genome editing, either as a therapeutic tool to understand the molecular biology and pathophysiology of neuromuscular disease or to test and implement this therapeutic tool as a personalized medicine therapy. New results, confirmatory results, and contradictory results will also be considered for publication.

Toshifumi Yokota is a co-founder and shareholder of OligomicsTx Inc., which aims to commercialize antisense technology.
Dongsheng Duan is an equity holder of Solid Biosciences. The Duan lab has received research supports from Solid Biosciences and Edgewise Therapeutics in the last three years.