Dr Charlotte L Alston,

Graduated in 2003 from the University of Aberdeen with a BSc (hons) degree in Genetics, having undertaken my honours project under the supervision of Professor Duncan Shaw. I commenced my Clinical Scientist training in 2004 within the Medical Genetics Laboratory in Aberdeen which I completed just before joining the NHS Highly Specialised Service for Rare Mitochondrial Disorders in Newcastle Upon Tyne in 2007. I obtained my HCPC State Registration in 2008 and spent the next 7 years working as a Clinical Scientist in Newcastle, investigating the genetic basis of mitochondrial diseases. I was awarded a Personal Fellowship from the National Institute of Health Research (NIHR) to undertake my doctorate in the Wellcome Centre for Mitochondrial Research in Newcastle upon Tyne (2013-2017, including a 6 month period of maternity leave) investigating the genetic basis of a cohort of paediatric mitochondrial disease patients using genomic technologies, for which I was awarded the Faculty Doctoral Thesis Prize. In 2018, I was awarded a NIHR Post-Doctoral Fellowship which I commenced in 2019 upon returning from my second period of maternity leave. I am Chief Investigator on a multi-site research study which applies whole exome sequencing of blood DNA samples from patient-parent trios with the aim of demonstrating that muscle biopsy no longer represents the ‘gold standard’ test for the majority of paediatric patients with suspected mitochondrial disease. My study also aims to reclassify variants of uncertain pathological significance (VUS) using multi-omic technologies; where patient biopsies are unavailable, CRISPR/Cas9-mediated knock-in of patient variants will generate surrogate tissues for functional experimentation to validate pathogenicity and facilitate access to genetic counselling and reproductive options for at-risk families.