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Genetic manipulation for inherited neurodegenerative diseases: myth or reality?

ABSTRACT: Rare genetic diseases affect about 7% of the general population and over 7000 distinct clinical syndromes have been described with the majority being due to single gene defects. This review will provide a critical overview of genetic strategies that are being pioneered to halt or reverse disease progression in inherited neurodegenerative diseases. This field of research covers a vast area and only the most promising treatment paradigms will be discussed with a particular focus on inherited eye diseases, which have paved the way for innovative gene therapy paradigms, and mitochondrial diseases, which are currently generating a lot of debate centred on the bioethics of germline manipulation.

SUBMITTER: Yu-Wai-Man P

PROVIDER: S-EPMC5050284 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature

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Genetic manipulation for inherited neurodegenerative diseases: myth or reality?

Yu-Wai-Man Patrick P

The British journal of ophthalmology 20160321 10

Rare genetic diseases affect about 7% of the general population and over 7000 distinct clinical syndromes have been described with the majority being due to single gene defects. This review will provide a critical overview of genetic strategies that are being pioneered to halt or reverse disease progression in inherited neurodegenerative diseases. This field of research covers a vast area and only the most promising treatment paradigms will be discussed with a particular focus on inherited eye d ...[more]

PMID: 27002113

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