Specialist centre for clinical care & research in mitochondrial diseases, The National Hospital for Neurology. Co-leads Profs @RobPitceathly.bsky.social & Mike Hanna
ucl.ac.uk/centre-for-neuromuscular-diseases/patient-services/london-mitochondrial-centre
London Mitochondrial Centre
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This article discusses emerging therapeutic approaches for mtDNA-related diseases, including gene therapy and mtDNA editing, small molecules, reproductive strategies, and mitochondrial transplantation.
Congratulations to Micol, @robpitceathly.bsky.social and all authors and collaborators involved in this work (please tag yourself or let us know your handle so we can include you here!).
@uclqsion.bsky.social @uclqsneuromuscular.bsky.social @mitonewcastle.bsky.social
We are delighted to share a new open-access study by Dr Micol Falabella & colleagues, published in @natcomms.nature.com Nature Communications: "COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy"
Paper: www.nature.com/articles/s41...
This study reports the largest genetically confirmed cohort of COXFA4-related primary #mitochondrial disease to date and finds that COXFA4L2 upregulation preserves residual complex IV activity in the absence of #COXFA4, revealing a compensatory mechanism with #translational potential.
These are great sessions with really knowledgeable speakers! @londonmito.bsky.social @mitonewcastle.bsky.social
We are pleased to share a new review published in Cell Reports Medicine @cellpress.bsky.social: “Emerging therapeutic strategies for mitochondrial DNA-related diseases”
Full article: doi.org/10.1016/j.xc...
#Mitochondria #mtDNA #GeneTherapy #GenomeEditing #RareDiseases #TranslationalMedicine
Congratulations to Rubing Shi, Micol Falabella, Jana Aref, Michael G. Hanna, @mitogene.bsky.social, Carlo Viscomi, and @robpitceathly.bsky.social for bringing this review together.
@uclqsion.bsky.social @uclqsneuromuscular.bsky.social
London Mitochondrial Centre
London Mitochondrial Centre
London Mitochondrial Centre
Supporting the patient voice 🩷
This May, our CEO and Founder, Liz Curtis, and Head of Patient Programmes, Katie Waller, hit the road to represent The Lily Foundation at three influential meetings.
To read more click here - https://ow.ly/9cj250Z16fb
London Mitochondrial Centre
London Mitochondrial Centre
London Mitochondrial Centre
Cambridge Clinical Mitochondrial Research Group
The Lily Foundation
📅 Mark your calendars – 16 June 2026
Join us for the next webinar in our series: an informal yet informative session exploring the journey to diagnosing mitochondrial disease.
To find out more - https://ow.ly/tp8v50Z4JiH
