Rare Genetic Disorders: Novel Treatment Strategies and Insights Into Human Biology.
Rare Genetic Disorders: Novel Treatment Strategies and Insights Into Human Biology.
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DOI：
10.3389/fgene.2021.714764
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发表时间：
2021
影响因子：
3.7
通讯作者：
Koster MI
中科院分区：
文献类型：
--
作者：
Koch PJ;Koster MI
在过去的十年里，治疗遗传性疾病的创新想法急剧增加，而这些疾病没有治愈性疗法。基因和蛋白质替代疗法作为治疗这些疾病中的一组选择的新方法而脱颖而出，例如某些组织脆性疾病。此外，干细胞方法的出现，如诱导多能干细胞（iPSC）技术，已经导致了为再生医学创造替代组织的新方法的发展。这与基因组编辑技术的发现相吻合，该技术允许纠正致病突变。这些发现的高潮表明，影响单个器官或组织的单基因疾病的新的和创新的疗法即将出现。然而，挑战仍然存在，特别是在发育过程中同时影响几个组织和器官的疾病方面。这组疾病的实例包括外胚层发育不良，影响组织和器官如皮肤、角膜和上皮附属物发育的遗传性疾病。基因或蛋白质替代策略不太可能成功地解决这些疾病的多器官表型。相反，我们认为更有效的方法将是专注于纠正最严重受影响组织的表型。这可能包括替代组织的产生或确定纠正特定组织中疾病途径的药物化合物。
The last decade has seen a dramatic increase in innovative ideas for the treatment of genetic disorders for which no curative therapies exist. Gene and protein replacement therapies stand out as novel approaches to treat a select group of these diseases, such as certain tissue fragility disorders. Further, the advent of stem cell approaches, such as induced pluripotent stem cells (iPSC) technology, has led to the development of new methods of creating replacement tissues for regenerative medicine. This coincided with the discovery of genome editing techniques, which allow for the correction of disease-causing mutations. The culmination of these discoveries suggests that new and innovative therapies for monogenetic disorders affecting single organs or tissues are on the horizon. Challenges remain, however, especially with diseases that simultaneously affect several tissues and organs during development. Examples of this group of diseases include ectodermal dysplasias, genetic disorders affecting the development of tissues and organs such as the skin, cornea, and epithelial appendages. Gene or protein replacement strategies are unlikely to be successful in addressing the multiorgan phenotype of these diseases. Instead, we believe that a more effective approach will be to focus on correcting phenotypes in the most severely affected tissues. This could include the generation of replacement tissues or the identification of pharmaceutical compounds that correct disease pathways in specific tissues.
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影响因子：
6
作者：
Menichini P;Monti P;Speciale A;Cutrona G;Matis S;Fais F;Taiana E;Neri A;Bomben R;Gentile M;Gattei V;Ferrarini M;Morabito F;Fronza G
通讯作者：
Fronza G
影响因子：
9
作者：
Novelli F;Lena AM;Panatta E;Nasser W;Shalom-Feuerstein R;Candi E;Melino G
通讯作者：
Melino G
影响因子：
10.3
作者：
Clements, S. E.;Techanukul, T.;McGrath, J. A.
通讯作者：
McGrath, J. A.
影响因子：
3.6
作者：
Maillard, Alexia;Alby, Caroline;Hadj-Rabia, Smail
通讯作者：
Hadj-Rabia, Smail
影响因子：
5.2
作者：
Barbaro, Vanessa;Nasti, Annamaria A.;Di Iorio, Enzo
通讯作者：
Di Iorio, Enzo