Neuromuscular disorders are a heterogeneous group of diseases affecting nerves and/or muscles, leading to various clinical signs including, but not limited to, delayed motor function, muscle weakness and loss and movement issues. Multi-omics data are presently available or within reach for most of these diseases thanks to the use of high-throughput sequencing technologies allowing a deep analyzes of these diseases like never before and paving the way to the emergence of innovative and specific therapeutic strategies. As most of these diseases are rare and still largely misunderstood, pharmacotherapies remain typically the treatment of choice but are rarely specific and can exert multiple side effects. With the emergence of promising technologies like gene transfer or gene and RNA editing, personalized and precision medicine seems within reach for a large subset of these disorders.
This Research Topic will provide an overview of the different types of personalized therapies for neuromuscular disorders that are currently used, but it will also welcome new and innovative approaches. Among the diseases of particular interest are rare pediatric diseases like DMD, SMA, Friedreich’s ataxia, LGMDs, Myotonic dystrophy, myasthenia gravis or CMTs.
The Research Topic will encompass Review and Original Research articles with a focus on, but not limited to:
• Compensatory approaches using surrogate proteins
• Gene transfer (including mini/micro-gene)
• Pharmacological approaches (antagonist of deregulated pathways, blocking antibodies, etc.)
• Gene Editing using CRISPR-based technologies, ZFNs or TALENs
• RNA modulation (exon skipping, stop codon readthrough, trans-splicing)
• Cell therapy (iPSC or ES reprogrammed cells, mesoangioblasts, myoblasts, satellite cells)
• Combination therapies (ex vivo therapy, small drugs promoting exon skipping, cell therapy combined with a pharmacological approach, etc.)
Neuromuscular disorders are a heterogeneous group of diseases affecting nerves and/or muscles, leading to various clinical signs including, but not limited to, delayed motor function, muscle weakness and loss and movement issues. Multi-omics data are presently available or within reach for most of these diseases thanks to the use of high-throughput sequencing technologies allowing a deep analyzes of these diseases like never before and paving the way to the emergence of innovative and specific therapeutic strategies. As most of these diseases are rare and still largely misunderstood, pharmacotherapies remain typically the treatment of choice but are rarely specific and can exert multiple side effects. With the emergence of promising technologies like gene transfer or gene and RNA editing, personalized and precision medicine seems within reach for a large subset of these disorders.
This Research Topic will provide an overview of the different types of personalized therapies for neuromuscular disorders that are currently used, but it will also welcome new and innovative approaches. Among the diseases of particular interest are rare pediatric diseases like DMD, SMA, Friedreich’s ataxia, LGMDs, Myotonic dystrophy, myasthenia gravis or CMTs.
The Research Topic will encompass Review and Original Research articles with a focus on, but not limited to:
• Compensatory approaches using surrogate proteins
• Gene transfer (including mini/micro-gene)
• Pharmacological approaches (antagonist of deregulated pathways, blocking antibodies, etc.)
• Gene Editing using CRISPR-based technologies, ZFNs or TALENs
• RNA modulation (exon skipping, stop codon readthrough, trans-splicing)
• Cell therapy (iPSC or ES reprogrammed cells, mesoangioblasts, myoblasts, satellite cells)
• Combination therapies (ex vivo therapy, small drugs promoting exon skipping, cell therapy combined with a pharmacological approach, etc.)