Brain Sciences


Meet the expert: Dr Robert Pitceathly

Dr Robert Pitceathly is a Principal Research Fellow and Honorary Consultant Neurologist. He co-leads the NHS Highly Specialised Service for Rare Mitochondrial Disorders at The National Hospital for Neurology and Neurosurgery and runs a research group studying mitochondrial disease and dysfunction at the UCL Queen Square Institute of Neurology.

Rob Pitceathly

What attracted you to the area of mitochondrial disease?

Mitochondria are ubiquitous organelles that provide cells with energy. Primary mitochondrial diseases are a large group of incurable genetic disorders that impair the ability of mitochondria to produce energy. This leads to a large spectrum of medical problems that affects both children and adults, can cause severe disabilities, and reduce lifespan.

I was inspired by the longstanding tradition that the National Hospital for Neurology and Neurosurgery and UCL Queen Square Institute of Neurology have in diagnosing, managing and researching mitochondrial diseases. I wanted to dedicate myself to improving the quality of life for people living with these conditions, given they represent a major unmet clinical need.

Can you tell us about your current research?

My research combines clinical observations with laboratory approaches to better understand the molecular basis and pathophysiological mechanisms of primary mitochondrial diseases and fundamental aspects of mitochondrial biology. I also lead an MRC funded national consortium of investigators (MRC MitoCluster), as part of the MRC National Mouse genetics Network, which is generating mouse models aimed at understanding neurological, and other human conditions, linked with mitochondrial dysfunction.

We hope these models will help identify biomarkers, and facilitate drug discovery and the transition of new therapies into the clinical environment. I collaborate with international colleagues as part of the International Centre for Genomic Medicine in Neuromuscular Diseases to expand knowledge of the global architecture of mitochondrial and other neuromuscular diseases. Finally, I am a principal investigator on several trials for mitochondrial diseases.

What aspect of your work most excites you and why?

Working alongside a fantastic multidisciplinary team dedicated to improving the lives of people with mitochondrial disease and feeding back research data with direct implications for patient care are the most rewarding aspects of my job. I am also excited by recent developments in mitochondrial genome editing and the development of genetic therapies with potential to modify the course of these diseases.

What would you say to someone who is considering whether to study neuromuscular diseases at UCL?

Stop considering and start applying! It’s a great time to be researching neuromuscular diseases, given advances in drug development (including genetic therapies) for this group of conditions. UCL is at the forefront of this cutting-edge research. Importantly, translating neuroscience discovery into benefits for patients with neuromuscular and neurological diseases is at the heart of all research undertaken at the UCL Queen Square Institute of Neurology, which makes it an incredibly inspiring place to work.

What’s the best advice you would give your younger self?

There’s no rush, take time to gain as much professional and life experience as possible. Persist and do not be afraid to fail (and keep failing) – you’ll get there in the end!