Mitochondrial dysfunction sits at the edge of a lot of neurodegeneration research, even when it isn’t the headline. This full-day symposium from UCL Queen Square Institute of Neurology, marking twenty years of the NHS England Highly Specialised Service for rare mitochondrial diseases, is worth a watch for anyone whose work touches on energy metabolism, neuronal vulnerability, or rare disease diagnostics.
Professor Mike Hanna opens the day, with the morning session chaired by Dr Rob Pitceathly covering the science. Rob introduces primary mitochondrial diseases, heteroplasmy, and the bottleneck effect. Dr Micol Falabella walks through experimental models and where each one earns its keep, from patient fibroblasts to zebrafish and mice. Professor Carlo Viscomi presents work on stimulating mitophagy with urolithin A and on AAV-based gene therapy. Dr Michal Minczuk covers mitochondrial genome engineering using base editors, and the new mouse models this is making possible.
The afternoon turns to diagnostics and counselling: Dr Enrico Bugiardini chairs, with Onyema Mwalei on NHS genetic testing pathways, Dr Amanda Heslegrave on functional biochemistry, Dr Will Macken on the nuances of prenatal testing and genetic counselling, and Dr Renata Kabiljo on long-read sequencing for structural variants that short reads keep getting wrong. Dr Kiara Pitceathly closes the science with biomarkers, outcome measures, and muscle MRI in clinical trials.
The day ends with Liz Curtis and Katy Gallop from the Lily Foundation sharing patient-led research on the experience of receiving a diagnosis. The findings are sobering and the recommendations useful for anyone involved in giving a rare disease diagnosis.
Hosted by UCL Queen Square Institute of Neurology, with sponsorship from UCB and support from the Lily Foundation.
Adam Smith