Gene therapy for ultrarare diseases: a geneticist's perspective.

IF 9 2区 医学 Q1 CELL BIOLOGY
Wuh-Liang Hwu
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引用次数: 0

Abstract

Gene therapy has made considerable strides in recent years. More than 4000 protein-coding genes have been implicated in more than 6000 genetic diseases; next-generation sequencing has dramatically revolutionized the diagnosis of genetic diseases. Most genetic diseases are considered very rare or ultrarare, defined here as having fewer than 1:100,000 cases, but only one of the 12 approved gene therapies (excluding RNA therapies) targets an ultrarare disease. This article explores three gene supplementation therapy approaches suitable for various rare genetic diseases: lentiviral vector-modified autologous CD34+ hematopoietic stem cell transplantation, systemic delivery of adeno-associated virus (AAV) vectors to the liver, and local AAV delivery to the cerebrospinal fluid and brain. Together with RNA therapies, we propose a potential business model for these gene therapies.

超级罕见病的基因治疗:遗传学家的视角。
近年来,基因治疗取得了长足的进步。已有 4000 多个蛋白编码基因与 6000 多种遗传疾病有关;下一代测序技术为遗传疾病的诊断带来了巨大变革。大多数遗传病被认为是非常罕见或极罕见的,这里的定义是病例少于 1:100,000,但在 12 种已获批准的基因疗法(不包括 RNA 疗法)中,只有一种是针对极罕见疾病的。本文探讨了适合各种罕见遗传病的三种基因补充疗法:慢病毒载体修饰的自体CD34+造血干细胞移植、全身性将腺相关病毒(AAV)载体输送到肝脏以及局部将AAV输送到脑脊液和大脑。结合 RNA 疗法,我们提出了这些基因疗法的潜在商业模式。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Journal of Biomedical Science
Journal of Biomedical Science 医学-医学:研究与实验
CiteScore
18.50
自引率
0.90%
发文量
95
审稿时长
1 months
期刊介绍: The Journal of Biomedical Science is an open access, peer-reviewed journal that focuses on fundamental and molecular aspects of basic medical sciences. It emphasizes molecular studies of biomedical problems and mechanisms. The National Science and Technology Council (NSTC), Taiwan supports the journal and covers the publication costs for accepted articles. The journal aims to provide an international platform for interdisciplinary discussions and contribute to the advancement of medicine. It benefits both readers and authors by accelerating the dissemination of research information and providing maximum access to scholarly communication. All articles published in the Journal of Biomedical Science are included in various databases such as Biological Abstracts, BIOSIS, CABI, CAS, Citebase, Current contents, DOAJ, Embase, EmBiology, and Global Health, among others.
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