I am a mitochondrial diagnostic technician working within the NCG Mitochondrial Diagnostic Service. My role is to provide technical support to the molecular clinical scientists with the aim of identifying DNA variants to provide a genetic diagnosis.
I work alongside other molecular technicians, clinical scientists and biomedical scientists who are specialised in areas such as histochemistry and biochemistry; I enjoy working together as a multi-disciplinary team to provide an accurate diagnosis for our patients.
I was inspired to work within a diagnostic lab after studying genetics as part of my degree in Biomedical Sciences at Durham University. Its of great importance to find and provide answers to families who are affected with mitochondrial disorders.
I am currently studying towards an MSc in Genomic Medicine and I am about to start my research project, alongside my day job within the mitochondrial diagnostic lab.
Investigating the molecular genetic basis of Mendelian mitochondrial disease
Principal Investigators: Professor Robert Taylor
The aim of my project is two fold:
- to validate a recently-designed Ampliseq capture of mtDNA maintenance proteins, and test this using Ion Torrent NGS
- to investigate a small group of patients submitted to in-house WES, including filtering and prioritisation of candidate variants, Sanger confirmation and familial segregation studies.