I completed my PhD in December 2011 (Institute of Genetic Medicine, Newcastle University). My research project focused on the investigation of the genetic risk factors in dementia with Lewy bodies and Parkinson’s disease, which are common forms of neurodegeneration.
Since June 2012 I have been pursuing my research as a Research Associate under the supervision of Professor Patrick Chinnery. My main scientific interest is the molecular genetics of brain degenerative disorders.
Whole exome genetic analysis in neurodegenerative diseases
Principal Investigator: Professor Patrick Chinnery
Other staff members involved: Dr Helen Griffin
My research focuses on neurodegenerative disorders associated with ageing. I am currently involved in several research projects investigating the molecular aetiology of neurodegeneration in Parkinson’s disease, dementia with Lewy bodies, Alzheimer’s disease and a rare neurological condition called neuroferritinopathy. My research also investigates the involvement of mitochondria in ageing and brain cell loss.
The primary aim of my research is the identification of the causative genes and possible risk factors in neurodegeneration. These investigations are being carried out using next generation (whole exome) sequencing technology.
Another objective of my research is the determination of whether the oxidative damage of mitochondrial DNA is a feature of brain degeneration, as this could have potential applications in treatment strategies.
Finally, I would like to evaluate whether the alternative splicing that occurs in the process of certain mitochondrial protein synthesis is altered in ageing and neurodegeneration.
Sponsor/Funder: NIHR Newcastle Biomedical Research Centre
Collaborators: Dr Christopher M Morris (Institute for Ageing and Health, Newcastle University) and Dr Julian Venables (Institute of Genetic Medicine, Newcastle University)