The event drew over 80 attendees, including clinical trainees, allied healthcare professionals, consultants, clinical scientists, and non-clinical researchers from 15 NHS Trusts and eight universities and research institutes across the UK and abroad. 

The Centre curated a diverse programme covering NHS diagnostics, pre-clinical modelling, genetic counselling, and PPI (patient and public involvement). The symposium also featured a very well-received talk from Professor Bobby McFarland, Newcastle University, showcasing his team’s impactful work on mitochondrial donation. 

The first speaker session gave an overview of pre-clinical mitochondrial disease models, delivered by MRC MitoCluster, including UCL Queen Square Institute of Neurology (IoN) academics Professor Rob Pitceathly and Dr Micol Falabella, and Professor Sara Wells from the Mary Lyon Centre, MRC Harwell. IoN clinical scientists Dr Áine Moylett, Dr Amanda Lam and consultant clinical academic Dr Will Macken presented updates in NHS genetic and biochemical diagnostics and genetic counselling in the second session. 

The day concluded with Session 3: Clinical Implementation of Genetic Counselling, Research, and Reproductive Strategies. IoN researcher Dr Renata Kabiljo spoke about applied bioinformatics in genetic diagnostics, followed by a talk on biomarkers and clinical trials from fellow researcher and consultant Dr Chiara Pizzamiglio. To close, the Lily Foundation gave a much-anticipated presentation emphasising importance of the patient’s perspective in the pathway to diagnosis. 

The event was organised by co-leads of the London Mitochondrial Centre, Professor Mike Hanna and Professor Rob Pitceathly, and Professor Simon Heales, Laboratory Director of the Neurometabolic Unit, UCL Queen Square Institute of Neurology. 

Professor Pitceathly said: “We were delighted to welcome colleagues from across the UK and internationally for a day showcasing the latest advances in mitochondrial medicine, spanning pre-clinical research, translational science, and NHS diagnostics. The meeting highlighted the strength of collaboration across the field and featured outstanding contributions from expert speakers.”

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