I am a Clinical Scientist working within the Newcastle Mitochondrial NCG Diagnostic Service. Having worked within the mitochondrial research group for a considerable number of years, I appreciate how important providing an accurate diagnosis of mitochondrial disease is to patients and their families. We use a multi-disciplinary approach, utilising histochemical, biochemical and molecular genetic techniques to investigate mitochondrial disease.
I work within the molecular genetic team, where we aim to identify the DNA variants which are responsible for a patient’s clinical presentation. Providing a genetic diagnosis is very important as it allows accurate genetic counselling. We continually strive to provide a more accurate and speedier diagnosis for mitochondrial disease, using new technologies as they become available and we are currently investigating using next-generation sequencing technology to further develop the diagnostic service.