Laboratory Technical Specialist
I completed my undergraduate degree in Applied Biology (BSc Hons) at Northumbria University before studying for my Medical Genetics MRes at Newcastle University. It was within the Wellcome Centre that I completed my research project, and was introduced to Mitochondrial research, using NGS to gain an insight into the molecular genetic analysis of nuclear-encoded genes of mitochondrial disease patients. From there I was able to functionally characterise numerous mutations, including two novel mutations.
After a 3 year break from science, I returned to the Mitochondrial Research Group via funding provided by L’Oreal UNESCO for Women in Science, where I concentrated on whole genome sequencing of a large m.3243A>G patient cohort.
Since then I have joined the NHS Highly Specialised Mitochondrial Diagnostics Service, where I work to provide functional proof that a DNA variant is in fact causative of disease, providing a definitive answer for the patient and their family. This includes using muscle and fibroblast samples to determine protein levels and the assembly of the Mitochondrial complexes.
Identification of nuclear factors modulating the clinical phenotype of m.3243A>G-related mitochondrial disease
The projects I assist all concentrate on the pathogenic variant m.3243A>G, particularly identifying variants in the nuclear genome that modify m.3243A>G-related disease. The m.3243A>G mutation is one of the most common pathogenic variants in the mitochondrial genome and therefore is the most common cause of mitochondrial disease in adults. It is associated with a wide range of clinical phenotypes, including seizures, strokes, diabetes, deafness, and cerebellar ataxia, as well as MELAS; a genetic condition which affects many of the body’s symptoms.
This vast array of phenotypes suggests an unidentified influence outside of mitochondrial DNA involvement. Family studies also suggest that nuclear variation influences clinical outcome. Therefore in order to confirm this, whole genome sequencing of a large m.3243A>G clinical cohort, and further analyses will be utilised to identify and assess these potential nuclear modifiers.
Sponsor/Funder: L’Oreal UNESCO for Women in Science