I completed my undergraduate degree in Biomedical Genetics at Newcastle University, during which I completed an 8 week research project here within The Wellcome Trust Centre For Mitochondrial Research. Upon completion of my undergraduate project, I applied for a PhD Studentship position within the Mitochondrial Research Group, which I began in September 2016.
Identifying new genes and molecular mechanisms in mitochondrial disease
The aim of my project is to define the molecular pathology of mitochondrial disease in children being investigated and diagnosed through a collaborative programme of whole exome sequencing for patients with mitochondrial disease, investigated through the NHS Highly Specialised Rare Mitochondrial Disorders Service. The aim of this project is to identify likely candidate genes upon whole exome sequencing of patients with mitochondrial disease, and to carry out the functional characterisation of these genetic defects to both confirm genetic diagnosis and understand the molecular effects of any novel, or previously uncharacterised, genes. The delineation of the role of novel disease gene variants in the pathology of mitochondrial disease will provide new information on the nature of specific mitochondrial disease, and mitochondrial function as a whole. In addition, the validation of disease causing genetic variants will be of diagnostic value to patients.
Sponsor/Funder: The Lily Foundation http://www.thelilyfoundation.org.uk