Site-specific genome editing in treatment of inherited diseases: possibility, progress, and perspectives
Advancements in genome editing enable permanent changes of DNA sequences in a site-specific manner, providing promising approaches for treating human genetic disorders caused by gene mutations. Recently, genome editing has been applied and achieved significant progress in treating inherited genetic...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
De Gruyter
2022-10-01
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| Series: | Medical Review |
| Subjects: | |
| Online Access: | https://doi.org/10.1515/mr-2022-0029 |
| _version_ | 1797848641312915456 |
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| author | Huang Chao Li Qing Li Jinsong |
| author_facet | Huang Chao Li Qing Li Jinsong |
| author_sort | Huang Chao |
| collection | DOAJ |
| description | Advancements in genome editing enable permanent changes of DNA sequences in a site-specific manner, providing promising approaches for treating human genetic disorders caused by gene mutations. Recently, genome editing has been applied and achieved significant progress in treating inherited genetic disorders that remain incurable by conventional therapy. Here, we present a review of various programmable genome editing systems with their principles, advantages, and limitations. We introduce their recent applications for treating inherited diseases in the clinic, including sickle cell disease (SCD), β-thalassemia, Leber congenital amaurosis (LCA), heterozygous familial hypercholesterolemia (HeFH), etc. We also discuss the paradigm of ex vivo and in vivo editing and highlight the promise of somatic editing and the challenge of germline editing. Finally, we propose future directions in delivery, cutting, and repairing to improve the scope of clinical applications. |
| first_indexed | 2024-04-09T18:31:50Z |
| format | Article |
| id | doaj.art-45e6a83413784a11ad4c5113fbcedeef |
| institution | Directory Open Access Journal |
| issn | 2749-9642 |
| language | English |
| last_indexed | 2024-04-09T18:31:50Z |
| publishDate | 2022-10-01 |
| publisher | De Gruyter |
| record_format | Article |
| series | Medical Review |
| spelling | doaj.art-45e6a83413784a11ad4c5113fbcedeef2023-04-11T17:07:17ZengDe GruyterMedical Review2749-96422022-10-012547150010.1515/mr-2022-0029Site-specific genome editing in treatment of inherited diseases: possibility, progress, and perspectivesHuang Chao0Li Qing1Li Jinsong2Key Laboratory of Systems Health Science of Zhejiang Province, School of Life Science, Hangzhou Institute for Advanced Study, University of Chinese Academy of Sciences, Hangzhou, Zhejiang, ChinaState Key Laboratory of Cell Biology, Shanghai Key Laboratory of Molecular Andrology, CAS Center for Excellence in Molecular Cell Science, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai, ChinaKey Laboratory of Systems Health Science of Zhejiang Province, School of Life Science, Hangzhou Institute for Advanced Study, University of Chinese Academy of Sciences, Hangzhou, Zhejiang, ChinaAdvancements in genome editing enable permanent changes of DNA sequences in a site-specific manner, providing promising approaches for treating human genetic disorders caused by gene mutations. Recently, genome editing has been applied and achieved significant progress in treating inherited genetic disorders that remain incurable by conventional therapy. Here, we present a review of various programmable genome editing systems with their principles, advantages, and limitations. We introduce their recent applications for treating inherited diseases in the clinic, including sickle cell disease (SCD), β-thalassemia, Leber congenital amaurosis (LCA), heterozygous familial hypercholesterolemia (HeFH), etc. We also discuss the paradigm of ex vivo and in vivo editing and highlight the promise of somatic editing and the challenge of germline editing. Finally, we propose future directions in delivery, cutting, and repairing to improve the scope of clinical applications.https://doi.org/10.1515/mr-2022-0029clinical applicationsgenome editinginherited diseasesmutationsprinciples |
| spellingShingle | Huang Chao Li Qing Li Jinsong Site-specific genome editing in treatment of inherited diseases: possibility, progress, and perspectives Medical Review clinical applications genome editing inherited diseases mutations principles |
| title | Site-specific genome editing in treatment of inherited diseases: possibility, progress, and perspectives |
| title_full | Site-specific genome editing in treatment of inherited diseases: possibility, progress, and perspectives |
| title_fullStr | Site-specific genome editing in treatment of inherited diseases: possibility, progress, and perspectives |
| title_full_unstemmed | Site-specific genome editing in treatment of inherited diseases: possibility, progress, and perspectives |
| title_short | Site-specific genome editing in treatment of inherited diseases: possibility, progress, and perspectives |
| title_sort | site specific genome editing in treatment of inherited diseases possibility progress and perspectives |
| topic | clinical applications genome editing inherited diseases mutations principles |
| url | https://doi.org/10.1515/mr-2022-0029 |
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