I work as a clinical research associate with the mitochondrial disease team and I am currently in my second year of PhD study. I am a neurology specialist trainee and worked in Edinburgh for 2 years prior to this post.
Phenotyping and genotyping adult mitochondrial disease
Principal Investigators: Dr McFarland, Prof Turnbull and Prof Taylor
The MRC Mitochondrial Disease Patient Cohort is a national collaborative project that has been launched since 2009. The main aims are to better understand the phenotypic and genotypic heterogeneity of mitochondrial disease and facilitate patient recruitment for basic science research and clinical study. To date, more than 1150 patients are registered in the cohort database and more than 55% of patients are recruited in Newcastle.
My PhD study is integrated with this cohort project. The cores are to clinically deep phenotype adult patients and family pedigrees, analyse disease burdens using Newcastle Mitochondrial Disease Adult Scale (NMDAS) and ultimately utilise these data to enrich our knowledge on the natural history of common genotypes (eg. m.3243A>G, m.8344A>G and recessive mutations in POLG1 gene) which has implications on accurate genetic counselling and long term disease management.
Sponsor/funder: MRC Centre for Neuromuscular Disease