Genome Editing for Rare Diseases.
Genome Editing for Rare Diseases.
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DOI：
10.1007/s40778-020-00175-1
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发表时间：
2020-09
影响因子：
1.4
通讯作者：
Kalinichenko VV
中科院分区：
文献类型：
--
作者：
Pradhan A;Kalin TV;Kalinichenko VV
全球有大量患者受到各种罕见疾病的影响，但这些患者的有效治疗选择有限。与更常见的疾病相比，罕见疾病仍然资金不足，导致研究进展和最终找到有效治疗方法的重大延误。在这里，我们回顾了基因组编辑工具的使用，以了解罕见疾病的发病机制，并以高度的精确度开发其他治疗方法。几种基因组编辑方法，包括CRISPR/Cas9，TALEN和ZFN，已被用于生成罕见疾病的动物模型，了解疾病发病机制，纠正患者源性体细胞和iPSC中的致病性突变，并开发罕见疾病的新疗法。CRISPR/Cas9系统是最广泛使用的基因组编辑方法，因为与TALEN和ZFN相比，它相对简单，效率上级。CRISPR/Cas9正在成为一种可行的基因编辑选择，用于治疗罕见的单基因和其他遗传定义的人类疾病。在大约7000种已知的罕见病中，只有不到5%的疾病有FDA批准的治疗方法，这就迫切需要进行额外的研究和临床试验，以确定罕见病患者的有效治疗方案。开发能够纠正或替换功能失调基因的有效基因组编辑工具将为这些疾病带来新的治疗方法。
Significant numbers of patients worldwide are affected by various rare diseases, but the effective treatment options to these individuals are limited. Rare diseases remain underfunded compared to more common diseases, leading to significant delays in research progress and ultimately, to finding an effective cure. Here, we review the use of genome-editing tools to understand the pathogenesis of rare diseases and develop additional therapeutic approaches with a high degree of precision. Several genome-editing approaches, including CRISPR/Cas9, TALEN and ZFN, have been used to generate animal models of rare diseases, understand the disease pathogenesis, correct pathogenic mutations in patient-derived somatic cells and iPSCs, and develop new therapies for rare diseases. The CRISPR/Cas9 system stands out as the most extensively used method for genome editing due to its relative simplicity and superior efficiency compared to TALEN and ZFN. CRISPR/Cas9 is emerging as a feasible gene-editing option to treat rare monogenic and other genetically defined human diseases. Less than 5% of ~7000 known rare diseases have FDA-approved therapies, providing a compelling need for additional research and clinical trials to identify efficient treatment options for patients with rare diseases. Development of efficient genome-editing tools capable to correct or replace dysfunctional genes will lead to novel therapeutic approaches in these diseases.
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影响因子：
2.6
作者：
Dharmadhikari AV;Szafranski P;Kalinichenko VV;Stankiewicz P
通讯作者：
Stankiewicz P
影响因子：
7.3
作者：
Cai, Yuqi;Bolte, Craig;Kalinichenko, Vladimir V.
通讯作者：
Kalinichenko, Vladimir V.
影响因子：
3.7
作者：
Dreano, Elise;Bacchetta, Marc;Cottart, Charles-Henry
通讯作者：
Cottart, Charles-Henry
影响因子：
8.8
作者：
Black M;Milewski D;Le T;Ren X;Xu Y;Kalinichenko VV;Kalin TV
通讯作者：
Kalin TV
影响因子：
16.6
作者：
Amoasii, Leonela;Li, Hui;Olson, Eric N.
通讯作者：
Olson, Eric N.