Genetic manipulation for inherited neurodegenerative diseases: myth or reality?
review · Level V
Where this comes from
- Record sourced from PubMed, PMID 27002113.
- Also identified by DOI 10.1136/bjophthalmol-2015-308329 and PMC identifier 5050284.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
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.
Medical subject headings
- Eye Diseases, Hereditary
- Genetic Therapy
- Neurodegenerative Diseases