Exciting news! 🎉 Our project "Diagnosis of primary mitochondrial myopathies using MRI to measure how muscles use oxygen", led by Dr Chiara Pizzamiglio and Dr Robert Pitceathly, was awarded a grant by Muscular Dystrophy UK #mitochondrialdisease #improvingdiagnostics #myopathy #musculardystrophy

Portico UCL will be lit up❇️green❇️ for World Mitochondrial Disease Week 🦠 Take your pic any evening 18-24 Sep & use tags to support #WorldMitoWeek #lightupformito #mitochondrialdisease #mito Not at UCL? Check the map to see sites near you 🌏  mitochondrialdiseaseweek.org/events/light-u…

Exciting News for #Clinicians! We are thrilled to announce that the Neurometabolic Unit at UCLH is now offering #cardiolipin measurement on bloodspot samples to diagnose #Barthsyndrome. More info 🔗shorturl.at/gmRVW or contact [email protected]

Great presentations now at NMSG Florida by our Queen Square Neuromuscular team well done Vino, Will & Iwona! ICGNMD UCL_QS_CNMD UCL Brain Sciences UCL Queen Square Institute of Neurology UCLH

Great young investigator session- love the cartoon!!-research is very hard but very important for our patients - success is often about dealing with failure effectively and constructively! Thanks to all for this important session! UCL Brain Sciences Academy of Medical Sciences UCLH UCL Queen Square Institute of Neurology

Will Macken presenting his research on improved mito diagnostics at NMSG2023 this weekend

Presenting preliminary results of our longitudinal MRI study in primary mitochondrial myopathies @NMSG_23 More exciting results to follow!! London Mitochondrial Centre

Today we’ve published an initial list of 200+ rare conditions that we’ll be looking for as part of the Generation Study, being delivered by our Newborn Genomes Programme: ow.ly/wUAg50PRLz9 Dr David Bick, Principal Clinician for the Newborn Genomes Programme, explains more.

Catch up with all the latest developments in mitochondrial eye disease with our latest review - out now in Eye!

Please see our latest mitochondrial transcription review, together with Ben Tan Benedict Tan: nature.com/articles/s4158…

Had a blast at the Young Adult Weekend! We are very grateful to the The Lily Foundation who not only support our research, but provide practical support for the community affected by #mito. Inspiring to spend time with such driven & accomplished young people. Thanks for the invite!

📢Come join our mitochondrial team at Queen Square! Robert Pitceathly Prof Michael Hanna Chiara Pizzamiglio Enrico Bugiardini Will Macken We are looking for a full-time clinical fellow. If you're passionate about advancing healthcare and making a difference, apply now! uclh.nhs.uk/work-with-us/c…

Major step forward to develop a cure for mtDNA disorders. Work of Wendy Shoop and colleagues at Precision Bio in collaboration with us. Precision BioSciences link.springer.com/10.1038/s42255…

Great team work to explore FSHD genetics in India. Many thanks to FSHD Leiden group- Richard Lemmers, Patrick and Silvere vd Maarel and UCL team Enrico Bugiardini Stephanie Efthymiou, PhD AFHEA🇨🇾🇬🇧 Will Macken Prof Michael Hanna and our fellows at AIIMS Alisha, Rinkle and Tanveer and our mentor Prof.Padma.

Really enjoyed meeting colleagues in Manchester today to discuss mito disease and The Lily Foundation research! Thanks so much for having me Manchester Rare Conditions Centre lots of great opportunities for collaboration in #RareDisorders

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach. Well done ⁦Carolina Jaramillo Oquendo⁩ new paper for lab. transcriptome finds mutations not found by DNA first pass ⁦Jenny Lord⁩ ⁦⁦Htoo Aung Wai⁩ link.springer.com/article/10.118…

Great way to kick off World Mitochondrial Disease week with the publication of PTPMT1 as a new disease gene! #WorldMitoWeek2024

Vino Prof Michael Hanna NIHR UCLH Biomedical Research Centre UCL Queen Square Institute of Neurology Muscular Dystrophy UK UCL Brain Sciences UCLH Congrats👏

The UCL portico has been green for mito all this week to raise awareness for this under-diagnosed group of diseases #worldmitoweek2024 #lightupformito The Lily Foundation

🚨 Exciting news for mitochondrial disease research! Abliva's KL1333 Phase 1a/b study, published in Brain, showed the drug is safe and demonstrates early signs of efficacy. A milestone for rare disease therapeutics! Read more: academic.oup.com/brain/article-…