Neurogenetics and Mitochondrial Disorders

Mitochondrial disorders are a major cause of inherited neurological disease affecting ~ 1 in 4000 of the population. Our work spans the whole translational spectrum, from basic science aimed at understanding mitochondrial biology and how it relates to human disease, through to clinical trials studying new treatments in patients. My ‘wet’ research laboratory is based on the MRC Mitochondrial Biology Unit (MBU) within the Cambridge Institute for Medical Research (CIMR) building. We use whole genome and transcriptome sequencing to discover new mitochondrial disorders, we study the disease mechanisms in cell and animal models to understand how mutations cause specific patterns of disease, and we carry our deep-phenotyping studies on patient cohorts, using this information to guide experimental medicine and early phase clinical trials. My group offers both clinical and basic science PhD students the opportunity to work in all of these areas.