Journal
BRITISH JOURNAL OF OPHTHALMOLOGY
Volume 100, Issue 10, Pages 1322-1331Publisher
BMJ PUBLISHING GROUP
DOI: 10.1136/bjophthalmol-2015-308329
Keywords
Genetics; Optic Nerve; Retina
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Funding
- Medical Research Council [G1002570]
- MRC [G0701386, G1002570] Funding Source: UKRI
- Fight for Sight [1570/1571, 1479/80] Funding Source: researchfish
- Medical Research Council [G1002570, G0701386] Funding Source: researchfish
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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.
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