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2000
Volume 26, Issue 4
  • ISSN: 1389-2029
  • E-ISSN: 1875-5488

Abstract

Rare genetic disorders collectively affect millions of individuals worldwide, presenting a significant clinical and research challenge due to the diversity and complexity of the underlying mutations. Current treatment options are often limited, focusing on symptom management rather than addressing the root genetic causes. This review article aims to provide a perspective on the evolving field of gene therapy for rare genetic disorders, emphasizing recent advancements, current challenges, and future directions. A comprehensive review of recent advancements in gene therapy for rare genetic disorders was conducted, focusing on therapeutic strategies, delivery systems, and clinical outcomes. Key examples, such as the use of viral vectors and gene-editing technologies (., CRISPR), were highlighted. The challenges, including immune responses and ethical concerns, were also examined. Gene therapy has achieved significant milestones, with the successful development of therapies like for spinal muscular atrophy and for retinal dystrophy. However, several hurdles, including efficient gene delivery, immune reactions, and long-term safety, remain unresolved. Gene therapy holds transformative potential for the treatment of rare genetic disorders. While recent successes mark a new era in genetic medicine, ongoing research is required to refine delivery mechanisms, overcome immune-related barriers, and ensure ethical and safe therapeutic interventions.

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Gene Therapy in Rare Genetic Disorders: Current Progress and Future Perspectives
Curr. Genomics 26, 278 (2025); https://doi.org/10.2174/0113892029361490250310041259
/content/journals/cg/10.2174/0113892029361490250310041259
/content/journals/cg/10.2174/0113892029361490250310041259
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  • Article Type:     Review Article
Keyword(s): ex vivo gene therapy; Gene therapy; in vivo gene therapy; rare genetic disorders; Zolgensma

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