I have always wanted to work in the medical field because I find medical research fascinating yet challenging. As a keen sportswoman, I have an invested interest in metabolomics, and how it can cause disease. I completed my bachelor’s degree in Biomedical Sciences at Newcastle University in 2011, specialising in complex diseases. My final year bachelor’s project was spent in a diabetes research laboratory where I first contributed to metabolic research. Following that, I spent a year teaching at Swinburne University in Melbourne, Australia and another year working in pharmaceutical research in Manchester, UK.
I am now completing an MRes/ PhD for the Wellcome Trust Centre for Mitochondrial Research at Newcastle University. My project aims to identify genetic factors which regulate the number of mitochondria we have in our cells, with hope to further understand, and eventually treat, major complex metabolic diseases like cancer, diabetes and Parkinson’s disease as well as mitochondrial diseases.
Genetic factors modulating mitochondrial copy number
Mitochondrial copy-number varies between tissue type and is dependent on metabolic demand and baseline mitochondrial DNA quality. Mitochondrial copy-number contributes to the development of neurodegenerative diseases like Parkinson’s disease, metabolic diseases like cancer or diabetes and mitochondrial diseases like Leber’s Hereditary Optic Neuropathy. Mitochondrial copy number is also predicted to affect both the progression and severity of disease. Little is known about what regulates mitochondrial copy number biogenesis genetically, therefore our project aims to address this.
We are performing genome-wide association studies in control cohorts, using both mitochondrial and nuclear single-nucleotide polymorphism variants and mitochondrial copy number as a quantitative trait, to identify genetic factors which regulate mitochondrial copy number variability. Once we are able to understand the complex genetic interactions between mitochondrial and nuclear DNA, we will investigate the downstream, functional effects in cells to further understand the mechanisms by which neurological, metabolic and mitochondrial diseases develop and progress.
Sponsor/funder: Barbour Foundation and Wellcome Trust