I am a HCPC-registered Clinical Scientist working in the molecular genetics team within the NHS Mitochondrial Diagnostic Laboratory. Providing an accurate genetic diagnosis for patients with mitochondrial disorders is crucial to allow appropriate clinical management of patients and their families, often guiding treatment and reproductive options, and we use a variety of molecular genetic techniques to identify pathogenic mutations in mitochondrial and nuclear genes. Our laboratory is particularly focused on the use of next generation sequencing to provide a more comprehensive service to patients, simultaneously sequencing an increased number of candidate genes at a significantly reduced cost compared to conventional Sanger sequencing. I enjoy the strong collaborations between our diagnostic laboratory and the research groups within the Centre and am particularly interested in the use of whole mitochondrial genome sequencing and whole exome sequencing to identify novel causes of mitochondrial disorders, often undertaking functional follow-up studies for novel variants identified by these approaches.
I am an Associate of the Royal College of Pathologists, having passed the FRCPath Part 1 examination in Molecular Genetics, and following a competitive national recruitment process was recently awarded a 5 year Health Education England-funded position to undertake Higher Specialist Scientific Training in Genetics through the National School of Healthcare Science.