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- W3193896342 abstract "Breakthroughs in molecular genetics have translated into exciting advances in the diagnostic methods and treatments of genetic neuromuscular disorders (NMD). In this chapter, we provide first an overview of genetic diagnosis in NMD, including a synopsis of methods of genetic testing, with emphasis on their clinical applications in the diagnosis of NMD. We then discuss the mechanisms of action of genetic treatments (RNA-based and DNA-based therapies), with examples of recently approved therapies including antisense oligonucleotides, small inhibitory RNA, small molecules and gene replacement therapy for Duchenne muscular dystrophy, spinal muscular atrophy, and hereditary transthyretin amyloid neuropathy. We briefly touch upon ongoing clinical trials of new potential treatments for amyotrophic lateral sclerosis, giant axonal neuropathy, and myotubular myopathy. While gene editing is still limited to preclinical studies, clinical trials are likely to follow in the near future. Newly available genetic tests and approved treatments have changed the diagnostic algorithm, clinical course, and long-term prognosis for patients with several progressive genetic NMD but have also raised several clinical, economic, and ethical challenges and policy and regulatory issues. The cost of genetic testing and novel therapies raises the question of affordability and access to care. As the field of genetic testing and treatments continues to evolve, further improvements in genetic diagnoses and addition of new therapeutic modalities for genetic disorders are to be expected." @default.
- W3193896342 created "2021-08-30" @default.
- W3193896342 creator A5028369738 @default.
- W3193896342 creator A5028663301 @default.
- W3193896342 date "2022-01-01" @default.
- W3193896342 modified "2023-09-24" @default.
- W3193896342 title "Molecular and Genetic Therapies" @default.
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