Wellcome Trust Centre For Mitochondrial Research

Charlotte Knowles

Biography

I am a Clinical Scientist working within the Newcastle Mitochondrial NCG Diagnostic Service. I have recently completed the NHS Scientist Training Programme in Genomics and returned to the Mitochondrial Diagnostic Service where I previously worked a Genetic Technologist. I was keen to return to the laboratory as we provide a unique multi-disciplinary service to investigate mitochondrial disease and work closely with the Clinical and Research teams.

As a Clinical Scientist, my role is to analyse and interpret genetic variation in our patients to try and determine a genetic diagnosis. Finding a genetic diagnosis is very important so our patients and their families can be offered appropriate counselling, treatment and support. I strive to provide our service users with timely and accurate results, and anticipate that the introduction of genomic techniques such as Whole Exome Sequencing into the NHS will enable us to provide more patients with a genetic diagnosis in the future.