%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.