Cambridge Clinical Mitochondrial Research Group

An exciting advance for patients with #mitochondrialdisease as new drug gets fast tracked! See more below from Pretzel Therapeutics as they tackle #POLG #mitochondrialdysfunction : lnkd.in/p/gftQnsCD #mitocanda #UMDF #mitoscientists #mitochondria #mtDNA #mitochondrialtherapy

Our data manager @emmawhite2601.bsky.social is running the Chicago marathon to support @lilyfoundation.bsky.social #mito. Donate here: www.justgiving.com/page/emma-wh... @jellevda.bsky.social @ritahorvath.bsky.social

Celebrating Mitochondrial Disease Awareness Week with a new format for our @biomednews.bsky.social selection of papers on #Mitochondria in #Health and #Disease! 💚 biomed.news/bims-mitdis/... @gavinmcstay.bsky.social @mitoscientist.bsky.social @mitoscientists.bsky.social @mitoworld.bsky.social

It's Word Mitochondrial Awareness week! We want to 'Put Mito on the Map'! @lilyfoundation.bsky.social have Zoom Rooms running on the topic of 'How To Talk About #Mito'. Email: katie@thelilyfoundation.org.uk @lifearc.bsky.social @mitonewcastle.bsky.social @londonmito.bsky.social

Tomorrow marks the start of World Mitochondrial Disease Awareness Week! 💚🌍 Together, we can make more people aware of mito. Together, we can put mito on the map. Get involved - https://ow.ly/Bxos50ZyVUS #MitoAware #MitoOnTheMap #MitochondrialDisease

Mitochondrial DNA has resisted the genetic engineering revolution for ~50 years. @aria-research.bsky.social is launching an ambitious effort to change that. Prof Michal Minczuk of @mrc-mbu.bsky.social will lead a £7.7mil project to make mitochondria programmable. www.cimr.cam.ac.uk/news/michal-...

"The next three years will be pivotal." In @healthcaretoday.bsky.social's latest interview, our CEO Sam Barrell discusses the changes needed to accelerate rare disease research in the UK and deliver greater patient impact. healthcaretoday.com/article/life...

Just ONE WEEK to go until World Mitochondrial Disease Awareness Week! 🦋 World Mitochondrial Disease Awareness Week is a time to shine a light on mitochondrial disease. Together, we can raise awareness, spark conversations around mitochondrial disease.

The first stem cell model has been created for MELAS syndrome, a rare mitochondrial disorder that causes stroke-like episodes, dementia and muscle weakness. Symptoms often begin in childhood or early adulthood. #MELAS www.clinical-neuroscience.cam.ac.uk/news/first-s...

Congrats to Pedro Guiomar on our new paper published today! 🧬 We show that PUSL1 pseudouridylates U39 in mitochondrial tRNAs and link disruption of this pathway to human neurological phenotypes. A great team effort — congratulations to everyone involved! academic.oup.com/nar/article/...

Just one month to go until World Mitochondrial Disease Awareness Week! 💚🌍 This year's theme is 'Putting Mito on the Map' - save the date, join the conversation and help us put mito on the map. 💚🦋 https://ow.ly/7gRc50Zyq8x #WorldMITOWeek2026 #PuttingMitoOnTheMap

Delighted to share the launch of the Cambridge-led, £50m MRC Centre of Research Excellence in Mitochondrial Genome Therapeutics (CoRE-MitoGT). Over 14 years, we will unite international expertise to understand mtDNA disease & develop therapies targeting its root causes. www.ukri.org/news/mrc-fun...

The @lifearc.bsky.social Centre for Rare Mitochondrial Diseases is pleased to feature in #Raremap – a new directory connecting rare disease organisations. Raremap makes it easier to find partners & collaborators across the rare disease ecosystem. Visit Raremap: raremap.co.uk #mito #RareDisease

The Lily Foundation are proud to feature in Raremap – a brand new directory of rare disease organisations What a brilliant resource to drive progress for those living with rare conditions Find out more: https://raremap.co.uk/ #RareDisease #MitochondrialDisease #Raremap #MitoAware LifeArc

*Save the date* 🗓️ 20th Annual Neuromuscular Translational Research Conference will take place Tuesday 20th and Wednesday 21st April 2027, at the UCL Institute of Child Health in London. More info to follow in coming months.

In a letter published today in the @financialtimes.com, our CEO Sam Barrell welcomes increased investment in rare diseases while arguing that much more needs to be done to bring new treatments to patients. www.ft.com/content/d365...

It's brilliant to have so many organisations joining Raremap. If you work in rare diseases and are not part of the directory yet, apply to be added now.

And now, we also have a #bioinformatician post live as well! 📢📢. Apply here: www.cam.ac.uk/jobs/bioinfo... #mito @ritahorvath.bsky.social @jellevda.bsky.social @mrc-mbu.bsky.social

🧠 How can 'mini brains' help unlock the mysteries of mitochondrial disease? Read more about this fascinating research via the link ⬇️ https://www.thelilyfoundation.org.uk/affected-by-mito/our-research/research-zone/how-mini-brains-are-helping-scientists-study-mitochondrial-disease/

We look forward to working with you Arantxa!! @londonmito.bsky.social @mitonewcastle.bsky.social @jellevda.bsky.social @taylorlabncl.bsky.social @ritahorvath.bsky.social @mrc-mbu.bsky.social @robpitceathly.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...

At the LifeArc Translational Science Summit, our CEO Sam Barrell reflected on the importance of bringing together the translational community and why the UK is so well-placed to advance treatments for people living with rare diseases. #LATSS2026

Thank you for organising them!!

Science, smiles and special connections at our Lily Family Weekend. 💗🔬 It was wonderful to bring families, clinicians, researchers and early career scientists together to share knowledge, ask questions and explore the science behind mitochondrial disease. #science #raredisease

We're hiring a Postdoctoral Research Associate at the MRC Mitochondrial Biology Unit @mrc-mbu.bsky.social Cambridge Join our ARIA Precision Mitochondria project with Bitrobius Genetics to develop novel technologies for mitochondrial DNA delivery and genome engineering www.cam.ac.uk/jobs/researc...

Our CEO Liz Curtis spoke to xtalks.com recently about The Lily Foundation’s strategy to transform mitochondrial disease research and our long-term vision for the UK Mitochondrial Disease Research Institute. Read the full interview 👇 https://ow.ly/Wz1G50Z7vEw

Euromit 2029 is coming to Newcastle! Following a successful bid led by Prof Laura Greaves & UK colleagues, Newcastle Mitochondrial Research Group will host Europe’s leading mitochondrial meeting. The Lily Foundation is proud to support the organising committee & help shape the patient programme.

📅 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/wC8L50Z4Jiq

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...

These are great sessions with really knowledgeable speakers! @londonmito.bsky.social @mitonewcastle.bsky.social

Trying to understand how cells work used to be a bit like making a smoothie 🍓🥭🍌 To read more about this insightful research click here https://ow.ly/2z3t50Z14hQ

Visualising heteroplasmic mitochondrial DNA variants in situ? Now out as #mtDNA-smFISH in @cp-devcell.bsky.social! We find purifying selection against pathogenic mtDNA variants through genetic bottlenecks in the germline and the developing brain. www.cell.com/developmenta...

Wonderful work from our lab's first PhD student Rajini Chandrasegaram, with Antony Hynes-Allen, Stavroula Petridi, @beitongtong.bsky.social, @abhilesh.bsky.social. Thanks to great collaborations with Hansong Ma, @prudentlab.bsky.social @mitocamb.bsky.social @frisophagy.bsky.social!

From thymidine kinase 2 deficiency (TK2d) recognition to management Diagnosis pathways are rarely linear and shaped by key clinical decisions. At #Euromit2026, UCB joins scientific exchange on TK2d, through sessions, exhibition, and a symposium on the journey from recognition to disease management.💬

Listen to the latest episode of the Rarely Heard podcast from Beacon for Rare Diseases to hear our Head of Rare Disease, Alessandra Gaeta, in conversation with other industry experts on the evolving world of rare disease policy. https://www.rarebeacon.org/rarely-heard/season-three/

Great to see such a strong turnout, and a continued emphasis on collaboration - with patient organisations as well as across clinical and scientific disciplines Looking forward to seeing how these conversations shape future research and, ultimately, improve outcomes for people living with mito

Individually rare. Collectively common. The @newstatesman1913.bsky.social special rare disease report explores what more can be done to deliver faster diagnoses and better treatments. 👉 Read now: https://t.ly/EyekY

Wonderful and honoured to write a perspective with @prudentlab.bsky.social @mrc-mbu.bsky.social on such an intriguing and cool observation of beautiful mitochondrial biology! Amazing work on how pearling allows mitochondrial genome organisation by @jclandoni.bsky.social @sulianamanley.bsky.social!

Congratulations!! A labour of love.

Interested in Pre-clinical Mitochondrial Disease Models? MRC MitoCluster is delivering a session this May at Queen Square Advances in Mitochondrial Medicine 2026. Register now to join! #MitochondrialDisease #MitochondrialMedicine #mtDNA #GeneticEngineering #PreclinicalResearch #RareDisease