Neuromuscular diseases: genomics-driven advances
Abstract Neuromuscular diseases (NMDs) are a group of rare disorders characterized by significant genetic and clinical complexity. Advances in genomics have revolutionized both the diagnosis and treatment of NMDs. While fewer than 30 NMDs had known genetic causes before the 1990s, more than 600 have...
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BioMed Central
2024-11-01
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| Series: | Genomics & Informatics |
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| Online Access: | https://doi.org/10.1186/s44342-024-00027-y |
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| author | Anna Cho |
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| author_sort | Anna Cho |
| collection | DOAJ |
| description | Abstract Neuromuscular diseases (NMDs) are a group of rare disorders characterized by significant genetic and clinical complexity. Advances in genomics have revolutionized both the diagnosis and treatment of NMDs. While fewer than 30 NMDs had known genetic causes before the 1990s, more than 600 have now been identified, largely due to the adoption of next-generation sequencing (NGS) technologies such as whole-exome sequencing (WES) and whole-genome sequencing (WGS). These technologies have enabled more precise and earlier diagnoses, although the genetic complexity of many NMDs continues to pose challenges. Gene therapy has been a transformative breakthrough in the treatment of NMDs. In spinal muscular atrophy (SMA), therapies like nusinersen, onasemnogene abeparvovec, and risdiplam have dramatically improved patient outcomes. Similarly, Duchenne muscular dystrophy (DMD) has seen significant progress, most notably with the FDA approval of delandistrogene moxeparvovec, the first micro-dystrophin gene therapy. Despite these advancements, challenges remain, including the rarity of many NMDs, genetic heterogeneity, and the high costs associated with genomic technologies and therapies. Continued progress in gene therapy, RNA-based therapeutics, and personalized medicine holds promise for further breakthroughs in the management of these debilitating diseases. |
| format | Article |
| id | doaj-art-51c571fa520a47f6b580de2ce255279b |
| institution | Kabale University |
| issn | 2234-0742 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | BioMed Central |
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| series | Genomics & Informatics |
| spelling | doaj-art-51c571fa520a47f6b580de2ce255279b2025-02-03T11:46:45ZengBioMed CentralGenomics & Informatics2234-07422024-11-012211410.1186/s44342-024-00027-yNeuromuscular diseases: genomics-driven advancesAnna Cho0Department of Pediatrics, Seoul National University Bundang HospitalAbstract Neuromuscular diseases (NMDs) are a group of rare disorders characterized by significant genetic and clinical complexity. Advances in genomics have revolutionized both the diagnosis and treatment of NMDs. While fewer than 30 NMDs had known genetic causes before the 1990s, more than 600 have now been identified, largely due to the adoption of next-generation sequencing (NGS) technologies such as whole-exome sequencing (WES) and whole-genome sequencing (WGS). These technologies have enabled more precise and earlier diagnoses, although the genetic complexity of many NMDs continues to pose challenges. Gene therapy has been a transformative breakthrough in the treatment of NMDs. In spinal muscular atrophy (SMA), therapies like nusinersen, onasemnogene abeparvovec, and risdiplam have dramatically improved patient outcomes. Similarly, Duchenne muscular dystrophy (DMD) has seen significant progress, most notably with the FDA approval of delandistrogene moxeparvovec, the first micro-dystrophin gene therapy. Despite these advancements, challenges remain, including the rarity of many NMDs, genetic heterogeneity, and the high costs associated with genomic technologies and therapies. Continued progress in gene therapy, RNA-based therapeutics, and personalized medicine holds promise for further breakthroughs in the management of these debilitating diseases.https://doi.org/10.1186/s44342-024-00027-yNeuromuscular diseasesGenomicsGene therapyNext-generation sequencing (NGS)Rare genetic disorders |
| spellingShingle | Anna Cho Neuromuscular diseases: genomics-driven advances Genomics & Informatics Neuromuscular diseases Genomics Gene therapy Next-generation sequencing (NGS) Rare genetic disorders |
| title | Neuromuscular diseases: genomics-driven advances |
| title_full | Neuromuscular diseases: genomics-driven advances |
| title_fullStr | Neuromuscular diseases: genomics-driven advances |
| title_full_unstemmed | Neuromuscular diseases: genomics-driven advances |
| title_short | Neuromuscular diseases: genomics-driven advances |
| title_sort | neuromuscular diseases genomics driven advances |
| topic | Neuromuscular diseases Genomics Gene therapy Next-generation sequencing (NGS) Rare genetic disorders |
| url | https://doi.org/10.1186/s44342-024-00027-y |
| work_keys_str_mv | AT annacho neuromusculardiseasesgenomicsdrivenadvances |