title: 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.
authors.affiliation: Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, UK NIHR Biomedical Research Centre at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK.
authors.forename: Patrick
authors.initials: P
authors.lastname: Yu-Wai-Man
mesh_terms: D015785:Eye Diseases, Hereditary / Q000235:genetics / Q000628:therapy*; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D019636:Neurodegenerative Diseases / Q000151:congenital / Q000235:genetics / Q000628:therapy*
keywords: Genetics; Optic Nerve; Retina