Lucie Taylor

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.