Rob Pitceathly
@robpitceathly.bsky.social
Head of Research Department @uclqsneuromuscular.bsky.social | Professor of Clinical Neurology and Mitochondrial Medicine @uclqsion.bsky.social | Lead @mrcmitocluster.bsky.social | Co-lead @londonmito.bsky.social
The very fit and healthy team here at UCL Queen Square Institute of Neurology are running 10K for the National Brain Appeal this weekend, under a hot sun! Runners include our Director Professor Mike Hanna. Please consider donating to this excellent charity! www.justgiving.com/page/the-nat...
We are running the Saucony London 10K 2026!
Help The National Brain Appeal Page raise money to support The National Brain Appeal
justgiving.com
We are celebrating 75 years of research, innovation and education with global patient impact! Watch how Queen Square’s unique combination of research, clinical care and collaboration has shaped major neurological breakthroughs and continues to drive future treatments youtu.be/QbgSKrvgQXw
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
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.
This link will take you to a page that’s not on LinkedIn
lnkd.in
Congratulations to Pietro Fratta on being elected as a Fellow of the Academy of Medical Sciences 😊- acmedsci.ac.uk/more/news/ac...
Looking forward to seeing you soon at Queen Square Advances in Mitochondrial Medicine 2026! We hope you'll join us for the day, plus the networking reception after (drinks and snacks provided). UCL/UCLH staff & students - contact us via email for your free registration code: bit.ly/QSmitomed2026
Queen Square Advances in Mitochondrial Medicine 2026
The London Mitochondrial Centre is hosting a one-day symposium.
bit.ly
London Mitochondrial Centre@londonmito.bsky.social · 4mo agoJust over a month to go! Register now to secure your place 👉 bit.ly/QSmitomed2026
Congratulations to Giampietro Schiavo on receiving the 2026 Basic Science Life Achievement Award of the International Neurotoxin Association. This award recognises the contributions of the Schiavo Lab. to the understanding of the mechanism of action of botulinum and tetanus neurotoxins.
Congratulations to Karen Gunanayagam on successfully being awarded a Guarantors of Brain Clinical Fellowship, starting in April 2026.
Congratulations to Natalia Dominik on receiving a Guarantors of Brain non-clinical postdoctoral fellowship for 3 years from October 2026.
Catch 4 presentations featuring HiFi data at #FOG2026 on Jan 28 with Anna Lindstrand, @robpitceathly.bsky.social, @whaerty.bsky.social, and @adameur.bsky.social. Learn how #LongReadSequencing is enabling diagnostics and uncovering new therapeutic opportunities. Full details here: bit.ly/3MAm7y1
A wonderful evening at the DNMD Christmas Drinks, bringing together colleagues from across the department. Thank you to everyone who joined us and best wishes for a well-deserved break and a happy festive season. 🎄🥂 @uclqsion.bsky.social @uclh.bsky.social @uclbrainscience.bsky.social
@jwmdrc-registries.bsky.social @jellevda.bsky.social @jwmdrc.bsky.social @ritahorvath.bsky.social @taylorlabncl.bsky.social @mitocamb.bsky.social @londonmito.bsky.social @gitaramdharry.bsky.social @robpitceathly.bsky.social
ICGNMD@icgnmd.bsky.social · 8mo ago📣Time to start thinking about abstract submissions and accommodation bookings for UK Neuromuscular Translational Research Conference 2026 17/18 April, Cambridge, UK. Check out the interesting 2026 agenda 📷https://bit.ly/3XOjZF8 (Image: Christin Hume @unsplash)
Great two days in York with the MRC National Mouse Genetics Network. Always a pleasure to be invited to share MitoCluster's work, thank you! @mrcmousenetwork.bsky.social @jellevda.bsky.social @lauragreaves.bsky.social @robpitceathly.bsky.social
✍️ Apply now! Clinical Fellowship in imaging for evaluation of mitochondrial disease severity, progression, and treatment response, in our excellent & supportive team at UCL Queen Square / UCLH NHS Highly Specialised Service for Rare Mitochondrial Disorders shorturl.at/jaSke
UCL – University College London
UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).
ucl.ac.uk
It's World Mitochondrial Disease Awareness Week 💚 Since we couldn't #LightUpForMito this year the team's looking lit in green to raise awareness instead! Read more here: www.thelilyfoundation.org.uk/charity/get-... #mitoaware #mitochondrialdisease #worldmitoweek2025 @lilyfoundation.bsky.social
UCL Queen Square MND Centre Sixth ALS/MND International Symposium in Partnership with the UK MND Research Institute held on Friday 05 September 2025
Congratulations to the Cortex Lab and International Brain Lab bsky.app/profile/intl...
International Brain Laboratory@intlbrainlab.bsky.social · 11mo agoTwo flagship papers from the International Brain Laboratory, now out in @Nature.com: 🧠 Brain-wide map of neural activity during complex behaviour: doi.org/10.1038/s41586-025-09235-0 🧠 Brain-wide representations of prior information in mouse decision-making: doi.org/10.1038/s41586-025-09226-1 +
Well done James! Fantastic achievement and truly well deserved 😊
James N. Sleigh@jamessleigh.bsky.social · 12mo agoIt's an honour to become a Professor at such a wonderful institution @uclqsion.bsky.social @uclbrainscience.bsky.social. The @uclqsneuromuscular.bsky.social is an amazing place to work and I couldn't have done it without my fantastic team, mentors and collaborators: www.ucl.ac.uk/brain-scienc...
💬 "Why do cells that function normally for years stop working?" We speak to Professor Elizabeth Fisher (@uclqsion.bsky.social) about what drives her research. www.ucl.ac.uk/brain-scienc...
Another fulfilling week for The Greensmith Lab (+ colleagues from other DNMD groups) hosting their annual Work Experience at UCL QSIoN. The Summer Students were able to get a taste of scientific life, with hands-on experience, learning key skills eg. pipetting, cell culture, immunostaining and more!
UCL Queen Square Institute of Neurology Summer Drinks, October Gallery, July 2025 ☺️
We are pleased to share an exciting new research opportunity for a clinician with a neurology background to join the London Mitochondrial Team, focusing on innovative MRI techniques in mitochondrial disease: www.ucl.ac.uk/work-at-ucl/...
UCL – University College London
UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).
ucl.ac.uk
Members of the Houlden Lab at UCL Queen Square IoN recently took part in the Celebrating Research at UCLH Open Day! It was a fantastic opportunity to connect with patients, families, and the wider public - sharing the latest advances in neurogenetics. #UCLHResearch #Neurogenetics
Blood test developed that could speed up diagnosis of rare diseases in babies
Blood test developed that could speed up diagnosis of rare diseases in babies
Scientists say new approach means effects of many genetic mutations can be analysed at once and yield results in days A new blood-based test that could help speed up diagnoses for children born with rare genetic disorders has been developed by researchers in an effort to provide answers – and treatments – sooner. Rare genetic disorders include a host of conditions, from cystic fibrosis to diseases relating to the mitochondria – the powerhouses of our cells. However, getting a diagnosis can be arduous. Continue reading...
theguardian.com
Meet the minds behind the LifeArc Centre for Rare Mitochondrial Diseases Hear the excitement from the project leads as they hope to transform the mitochondrial research landscape, and meet mito patient Harry, who reminds us why this work matters www.thelilyfoundation.org.uk/affected-by-...
With Prof @robpitceathly.bsky.social at #PacBioPRISM Athens, discussing the potential for Lily Foundation and LifeArc's diagnostic goals to be realised by integrating PacBio HiFi sequencing into #NHS diagnostics 🤝 @lilyfoundation.bsky.social @lifearc.bsky.social @pacbio.bsky.social
Very full schedule at our #IMGCglasgow workshop last week, delivered by MitoCluster team @robpitceathly.bsky.social, Carlo Viscomi, @mitogene.bsky.social, and @jim-ca.bsky.social. A pleasure to attend, thanks for the invite @mrcmousenetwork.bsky.social & IMGS! 🧬 #mitochondria #MouseModels #ECR
