About this Research Topic
Almost all neuromuscular diseases are classified as rare disorders. Despite this, the overall number of patients affected by this class of diseases is very large, posing a great burden on health care systems. In the 1990s many of these disorders were adequately classified and their main disease mechanisms were uncovered. In the last ten years, intensive laboratory work led to the development of new therapies. Researchers developed novel therapies for immune-mediated neuromuscular disorders such as complement inhibitors, Fcn receptor blockers, and other monoclonal antibodies. We are also experiencing a new approach to hereditary neuromuscular diseases, from therapeutic nihilism to enzyme replacement, antisense molecules, gene therapies, etc. Once when we became able to use new therapies in clinical practice, we realized that we need faster and more reliable diagnostic methods, better noninvasive biomarkers of disease course and therapy response, as well as a better understanding of disease mechanisms to develop better therapies.
Next-generation sequencing has truly facilitated the diagnosis of neuromuscular disease patients worldwide. It has also been an invaluable tool in the discovery of new gene associations, with over 100 new genes identified in the neuromuscular disease field alone. However, up to 50% of patients with hereditary neuromuscular disorders remain genetically unsolved. In addition, the discovery of new genes allows for a better understanding of neuromuscular disease pathways and, in turn, the development of potential therapies. Application of multi-omics approaches contributed to the identification of even more novel molecular players and drug targets in recent years, bringing hope for the development of mechanism-based therapeutics for neuromuscular diseases. A multi-omics approach may also help in the definition of biomarkers that may help in diagnostics, disease course, and therapy response prediction. Although considered as a classic method, histopathology is also pivotal for the characterization of novel neuromuscular diseases and to confirm genetic variants encountered via next-generation sequencing. It will be fundamental to assess the muscle and nerve healing in the setup of clinical trials. Histopathology also represents a precious source to understand mechanisms leading to neuromuscular diseases.
The main aim of this Research Topic is to collect up-to-date knowledge of translational research into neuromuscular diseases. We are focusing on practical applications of basic research and also how clinical practice may direct laboratory work. Original research is of special interest, but we also welcome review articles, and we are willing to receive clinical trial results.
The following neuromuscular diseases are of special interest for this topic:
- hereditary myopathies,
- myotonic dystrophies,
- neuromuscular junction diseases,
- hereditary neuropathies,
- hereditary spastic paraplegias.
We are specifically focused on these fields of basic research:
- next-generation sequencing,
- multi-omics approaches,
- biomarker analyses,
- muscle and nerve histopathology.
Topic Editor Dr. Stanley Iyadurai is employed by company Catalyst Pharmaceuticals. All other Topic Editors declare no competing interests with regards to the Research Topic subject.
Keywords: neuromuscular disorders, multi-omics, biomarkers, histopathology, next-generation sequencing
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