%0 Thesis %9 Doctoral %A Sheerin, U %B Molecular Genetics %D 2014 %F discovery:1457531 %I UCL (University College London) %P 225 %T The Use of Next Generation Sequencing Technologies to Dissect the Aetiologies of Parkinson’s disease and Dystonia %U https://discovery.ucl.ac.uk/id/eprint/1457531/ %X Whole exome sequencing (WES) – the targeted sequencing of the subset of the human genome that is protein coding – is a powerful and cost-effective new tool for dissecting the genetic basis of diseases and traits, some of which have proved to be intractable to conventional gene-discovery strategies. My PhD thesis focuses on the use of whole exome sequencing to dissect the genetic aetiologies of families with Mendelian forms of Parkinson’s disease and Dystonia. First I present a project where next generation sequencing played an important role in the identification of a novel Parkinson’s disease gene (VPS35). I then describe the use of WES in i) an autosomal dominant PD kindred, where a novel DCTN1 mutation was identified; and show a number of examples of successes and failures of WES in ii) autosomal recessive Parkinson’s disease and iii) autosomal recessive generalised dystonia. %Z Third party copyright material has been removed from ethesis.