治疗罕见遗传疾病的新一代疗法。

IF 2.5 4区 医学 Q3 GENETICS & HEREDITY Mutagenesis Pub Date : 2024-04-24 DOI:10.1093/mutage/geae002
Akhila Sankar, Ravi Kumar Y S, Anjali Singh, Riya Roy, Rashmi Shukla, Bhupendra Verma
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引用次数: 0

摘要

人类基因组的治疗潜力已通过新一代疗法的开发得到挖掘,这对治疗遗传疾病产生了很大影响。传统的治疗方法主要针对需要反复治疗的常见疾病。然而,随着近年来核酸技术的发展,利用 DNA 和 RNA 来改变或纠正遗传疾病的基因表达,罕见疾病的治疗模式发生了转变,提供了更多潜在的一次性治愈方案。使用 CRISPR-Cas 9、反义寡核苷酸、siRNA、miRNA 和适配体的先进技术是很有前景的工具,在治疗各种遗传疾病方面取得了成功的突破。这些分子化学成分的进步提高了它们的疗效,降低了毒性,并将它们的临床应用扩大到各种组织,治疗各类人类疾病。然而,在将这些先进技术转化为临床实践时,其安全性和有效性仍面临挑战。本综述主要关注罕见遗传病的潜在疗法,并探讨新一代技术如何通过基因抑制、替换和编辑使药物开发达到持久的治疗效果。
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Next-generation therapeutics for rare genetic disorders.

The therapeutic potential of the human genome has been explored through the development of next-generation therapeutics, which have had a high impact on treating genetic disorders. Classical treatments have traditionally focused on common diseases that require repeated treatments. However, with the recent advancements in the development of nucleic acids, utilizing DNA and RNA to modify or correct gene expression in genetic disorders, there has been a paradigm shift in the treatment of rare diseases, offering more potential one-time cure options. Advanced technologies that use CRISPR-Cas 9, antisense oligonucleotides, siRNA, miRNA, and aptamers are promising tools that have achieved successful breakthroughs in the treatment of various genetic disorders. The advancement in the chemistry of these molecules has improved their efficacy, reduced toxicity, and expanded their clinical use across a wide range of tissues in various categories of human disorders. However, challenges persist regarding the safety and efficacy of these advanced technologies in translating into clinical practice. This review mainly focuses on the potential therapies for rare genetic diseases and considers how next-generation techniques enable drug development to achieve long-lasting curative effects through gene inhibition, replacement, and editing.

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来源期刊
Mutagenesis
Mutagenesis 生物-毒理学
CiteScore
5.90
自引率
3.70%
发文量
22
审稿时长
6-12 weeks
期刊介绍: Mutagenesis is an international multi-disciplinary journal designed to bring together research aimed at the identification, characterization and elucidation of the mechanisms of action of physical, chemical and biological agents capable of producing genetic change in living organisms and the study of the consequences of such changes.
期刊最新文献
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