Rate My Professor Rob Pitceathly

Professor Rob Pitceathly is Professor of Clinical Neurology and Mitochondrial Medicine and Head of the Department of Neuromuscular Diseases at the UCL Queen Square Institute of Neurology. He completed his preclinical medical studies at the University of St Andrews and his clinical medical degree at the University of Manchester, followed by postgraduate neurology specialist training in Manchester. Pitceathly earned a PhD in Mitochondrial Diseases at the UCL Queen Square Institute of Neurology. He held an NIHR Academic Clinical Lecturer position in London and began an MRC Clinician Scientist Fellowship in March 2019. As Principal Research Fellow and Principal Investigator of the Pitceathly Research Group, he is an Honorary Consultant Neurologist at the National Hospital for Neurology and Neurosurgery, where he co-leads the NHS England nationally commissioned Rare Mitochondrial Disorders Service.

Pitceathly's research centres on mitochondrial diseases, encompassing their global prevalence and genetic architecture, the role of cardiolipin in mitochondrial health and disease, and the development of effective therapies. He leads the MRC National Mouse Genetics Network Mitochondria Cluster (MitoCluster), a £2.93 million consortium launched in April 2022 involving collaborators at UCL, MRC Harwell, University of Cambridge, MRC Mitochondrial Biology Unit, Newcastle University, EMBL's European Bioinformatics Institute, and University of Padua. This initiative generates mouse models with mitochondrial genome editing to study primary mitochondrial diseases and related conditions such as neurodegeneration, cancer, and ageing. He serves as Principal Investigator on several clinical trials for mitochondrial diseases and participates in the International Centre for Genomic Medicine in Neuromuscular Diseases. Key publications include 'CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: expanding the phenotypic spectrum of caveolinopathies' (2016), 'Rhabdomyolysis: A genetic perspective' (2015), 'Interventions for dysphagia in long-term, progressive muscle disease' (2016), and 'Mitochondrial myopathies in adults and children: management and therapy development' (2014). In June 2025, he delivered the Queen Square Inaugural Lecture titled 'Fuel, Fault, Fix: Towards Therapies for Mitochondrial Disease'.