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Cambridge Clinical Mitochondrial Research Group

@mitocamb.bsky.social
382 followers 266 following 79 posts

MitoCAMB brings together a team of clinical researchers focused on mitochondrial and neurodegenerative disease translational research. mitocamb.medschl.cam.ac.uk (Photo: Florian Klimm)

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Reposted by Cambridge Clinical Mitochondrial Research Group
www.MitoWorld.org @mitoworld.bsky.social · 22/09/2026
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
lnkd.in
Pretzel Therapeutics Receives FDA Fast Track Designation for PX578 for the Treatment of POLG-mediated Primary Mitochondrial Disorders | Pretzel Therapeutics
Another meaningful step forward for patients living with POLG disease.     We’re proud to announce that the U.S. FDA has granted Fast Track designation to PX578, our investigational, first-in-class PO...
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Cambridge Clinical Mitochondrial Research Group @mitocamb.bsky.social · 22/09/2026
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
justgiving.com
I'm running the Chicago Marathon to help The Lily Foundation beat Mito!
Help Emma White raise money to support The Lily Foundation
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Reposted by Cambridge Clinical Mitochondrial Research Group
Catalina Vasilescu, PhD @cvasilescu.bsky.social · 20/09/2026
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
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Cambridge Clinical Mitochondrial Research Group @mitocamb.bsky.social · 14/09/2026
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
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Reposted by Cambridge Clinical Mitochondrial Research Group
The Lily Foundation @lilyfoundation.bsky.social · 13/09/2026
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 - ow.ly/Bxos50ZyVUS #MitoAware #MitoOnTheMap #MitochondrialDisease
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Reposted by Cambridge Clinical Mitochondrial Research Group
Cambridge Institute for Medical Research @thecimr.bsky.social · 10/09/2026
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-...
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Reposted by Cambridge Clinical Mitochondrial Research Group
LifeArc @lifearc.bsky.social · 08/09/2026
"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...
healthcaretoday.com
LifeArc’s Sam Barrell: Real promise in rare diseases
The chief executive officer of LifeArc explains what we need to do to turn discovery science into patient benefit and why the UK has the potential to position itself as a market leader for rare diseas...
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Reposted by Cambridge Clinical Mitochondrial Research Group
The Lily Foundation @lilyfoundation.bsky.social · 07/09/2026
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.
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Reposted by Cambridge Clinical Mitochondrial Research Group
Clinical Neurosciences, Cambridge @cneurodept.bsky.social · 01/09/2026
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...
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Reposted by Cambridge Clinical Mitochondrial Research Group
Minczuk Lab @mitogene.bsky.social · 14/08/2026
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/...
academic.oup.com
The pseudouridine synthase PUSL1 modifies U39 of mitochondrial tRNAs and is linked to human neurological phenotypes
Abstract. Variants in the mitochondrial and nuclear genomes are linked to a wide range of human disorders marked by impaired mitochondrial function. Among
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Reposted by Cambridge Clinical Mitochondrial Research Group
The Lily Foundation @lilyfoundation.bsky.social · 14/08/2026
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. 💚🦋 ow.ly/7gRc50Zyq8x #WorldMITOWeek2026 #PuttingMitoOnTheMap
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Reposted by Cambridge Clinical Mitochondrial Research Group
Alex Whitworth lab @labwhitworth.bsky.social · 05/08/2026
Very excited to be a part of this major initiative. Great things to come for Mitochondrial diseases.
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Reposted by Cambridge Clinical Mitochondrial Research Group
Minczuk Lab @mitogene.bsky.social · 05/08/2026
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...
ukri.org
MRC funds world-class research into fatal genetic diseases
The Medical Research Council (MRC) has invested £50 million into the study of mitochondrial diseases to improve treatments.
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Cambridge Clinical Mitochondrial Research Group @mitocamb.bsky.social · 04/08/2026
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
raremap.co.uk
Home - Raremap
Your guide to the rare disease research ecosystem in the UK Raremap has been created to help you find out more about the organisations in the UK rare disease ecosystem, what they do and how they inter...
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Reposted by Cambridge Clinical Mitochondrial Research Group
The Lily Foundation @lilyfoundation.bsky.social · 31/07/2026
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: raremap.co.uk #RareDisease #MitochondrialDisease #Raremap #MitoAware LifeArc
raremap.co.uk
Home - Raremap
Your guide to the rare disease research ecosystem in the UK Raremap has been created to help you find out more about the organisations in the UK rare disease ecosystem, what they do and how they interact with each other. Categories of organisations, groups and networks There are many different groups and organisations all involved […]
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Reposted by Cambridge Clinical Mitochondrial Research Group
ucl-qs-cnmd.bsky.social @ucl-qs-cnmd.bsky.social · 30/07/2026
*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.
Delegates seated in lecture theatre
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Reposted by Cambridge Clinical Mitochondrial Research Group
LifeArc @lifearc.bsky.social · 28/07/2026
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...
ft.com
Letter: UK can lead way on rare disease treatments
From Sam Barrell, CEO of LifeArc, London WC1H, UK
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Reposted by Cambridge Clinical Mitochondrial Research Group
LifeArc @lifearc.bsky.social · 23/07/2026
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.
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Cambridge Clinical Mitochondrial Research Group @mitocamb.bsky.social · 23/07/2026
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
cam.ac.uk
Bioinformatician - Disease Gene Discovery - Inherited Mitochondrial Diseases
The University of Cambridge wishes to appoint a talented postdoctoral research associate in bioinformatics and computational biology to join a team of clinical, laboratory and computational scientists...
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Reposted by Cambridge Clinical Mitochondrial Research Group
The Lily Foundation @lilyfoundation.bsky.social · 16/07/2026
🧠 How can 'mini brains' help unlock the mysteries of mitochondrial disease? Read more about this fascinating research via the link ⬇️ www.thelilyfoundation.org.uk/affect…
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Cambridge Clinical Mitochondrial Research Group @mitocamb.bsky.social · 09/07/2026
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
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Reposted by Cambridge Clinical Mitochondrial Research Group
ICGNMD @icgnmd.bsky.social · 06/07/2026
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...
justgiving.com
We are running the Saucony London 10K 2026!
Help The National Brain Appeal Page raise money to support The National Brain Appeal
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Reposted by Cambridge Clinical Mitochondrial Research Group
LifeArc @lifearc.bsky.social · 06/07/2026
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
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Cambridge Clinical Mitochondrial Research Group @mitocamb.bsky.social · 06/07/2026
We have not one but TWO post-doc opportunities in our group: Molecular and cellular biology of mitochondrial disease models: www.cam.ac.uk/jobs/postdoc... Targeting mitophagy to modulate nuclear-mitochondrial interactions: www.cam.ac.uk/jobs/researc... Apply now!! @ritahorvath.bsky.social
cam.ac.uk
Research Associate (Fixed Term) - Targeting mitophagy to modulate nuclear-mitochondrial interactions
The University of Cambridge wishes to appoint a talented and ambitious laboratory postdoctoral research associate to join the research groups of Prof Patrick Chinnery, Prof Rita Horvath and Dr Jelle v...
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Cambridge Clinical Mitochondrial Research Group @mitocamb.bsky.social · 04/07/2026
Thank you for organising them!!
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Reposted by Cambridge Clinical Mitochondrial Research Group
The Lily Foundation @lilyfoundation.bsky.social · 23/06/2026
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
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Reposted by Cambridge Clinical Mitochondrial Research Group
Minczuk Lab @mitogene.bsky.social · 23/06/2026
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...
cam.ac.uk
Research Associate (Fixed Term)
The Medical Research Council Mitochondrial Biology Unit (MRC MBU), University of Cambridge wishes to appoint a post-doctoral Research Associate to join the research group of Prof. Michal Minczuk at th...
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Reposted by Cambridge Clinical Mitochondrial Research Group
The Lily Foundation @lilyfoundation.bsky.social · 04/06/2026
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 👇 ow.ly/Wz1G50Z7vEw
ow.ly
The Lily Foundation’s Strategy to Transform Mitochondrial Disease Research
Learn how The Lily Foundation is driving progress in mitochondrial disease research through patient registries and more.
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Reposted by Cambridge Clinical Mitochondrial Research Group
The Lily Foundation @lilyfoundation.bsky.social · 04/06/2026
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.
Conference panel discussion on stage with a large screen showing Euromit 2029 in Newcastle upon Tyne at sunset.
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Reposted by Cambridge Clinical Mitochondrial Research Group
The Lily Foundation @lilyfoundation.bsky.social · 03/06/2026
📅 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 - ow.ly/wC8L50Z4Jiq
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Reposted by Cambridge Clinical Mitochondrial Research Group
London Mitochondrial Centre @londonmito.bsky.social · 01/06/2026
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...
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Cambridge Clinical Mitochondrial Research Group @mitocamb.bsky.social · 29/05/2026
These are great sessions with really knowledgeable speakers! @londonmito.bsky.social @mitonewcastle.bsky.social
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Reposted by Cambridge Clinical Mitochondrial Research Group
The Lily Foundation @lilyfoundation.bsky.social · 27/05/2026
Trying to understand how cells work used to be a bit like making a smoothie 🍓🥭🍌 To read more about this insightful research click here ow.ly/2z3t50Z14hQ
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Reposted by Cambridge Clinical Mitochondrial Research Group
Jelle van den Ameele @jellevda.bsky.social · 13/05/2026
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...
cell.com
Single-molecule mitochondrial DNA imaging reveals heteroplasmy dynamics shaped by developmental bottlenecks and selection in vivo
Chandrasegaram et al. directly visualize mitochondrial DNA inside intact cells and tissues and reveal how genetic cell-to-cell variability arises during development. They show that somatic bottlenecks...
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Reposted by Cambridge Clinical Mitochondrial Research Group
Jelle van den Ameele @jellevda.bsky.social · 13/05/2026
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!
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Reposted by Cambridge Clinical Mitochondrial Research Group
Euromit-2026 @euromit-2026.bsky.social · 06/05/2026
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.💬
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Reposted by Cambridge Clinical Mitochondrial Research Group
LifeArc @lifearc.bsky.social · 27/04/2026
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. www.rarebeacon.org/rarely-heard/sea…
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Cambridge Clinical Mitochondrial Research Group @mitocamb.bsky.social · 24/04/2026
@lilyfoundation.bsky.social is advertising for a new #PPIE Manager. This person will strengthen the teams’ ability to embed PPIE within the @lifearc.bsky.social as well as across the #mito community. @londonmito.bsky.social @mitonewcastle.bsky.social www.thelilyfoundation.org.uk/charity/what...
thelilyfoundation.org.uk
Join our team - The Lily Foundation
Explore our current job vacancies and find out how you can help fight mitochondrial disease.
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Reposted by Cambridge Clinical Mitochondrial Research Group
The Lily Foundation @lilyfoundation.bsky.social · 22/04/2026
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
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Cambridge Clinical Mitochondrial Research Group @mitocamb.bsky.social · 22/04/2026
Great to bring together 70+ researchers & partners at the LifeArc Centre for Rare Mitochondrial Diseases Annual Meeting in Cambridge last week! From scientific updates and flash talks to patient voice discussions it was a day full of insight and collaboration!
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Reposted by Cambridge Clinical Mitochondrial Research Group
LifeArc @lifearc.bsky.social · 14/04/2026
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: t.ly/EyekY
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Reposted by Cambridge Clinical Mitochondrial Research Group
Jelle van den Ameele @jellevda.bsky.social · 05/04/2026
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!
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Cambridge Clinical Mitochondrial Research Group @mitocamb.bsky.social · 03/04/2026
Congratulations!! A labour of love.
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Reposted by Cambridge Clinical Mitochondrial Research Group
MRC MitoCluster @mrcmitocluster.bsky.social · 31/03/2026
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
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Reposted by Cambridge Clinical Mitochondrial Research Group
The Lily Foundation @lilyfoundation.bsky.social · 01/04/2026
We've worked really hard to create a easy accessible guide for those who are facing a new diagnosis of mitochondrial disease. 📖🩷 It's perfect for reading through for yourself or to send to a loved one to help keep them informed. Check out our fabulous new guide to mito.⬇️ ow.ly/391g50Yoxyj
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Reposted by Cambridge Clinical Mitochondrial Research Group
London Mitochondrial Centre @londonmito.bsky.social · 18/03/2026
Clinicians and researchers with an interest in #mitochondrial disease: Queen Square Advances in Mitochondrial Medicine (5 May 2026) is a CPD-approved course covering pre-clinical & translational research, and the latest updates in NHS diagnostic testing. Registration: www.ucl.ac.uk/brain-scienc...
ucl.ac.uk
Queen Square Advances in Mitochondrial Medicine 2026
The London Mitochondrial Centre is hosting a one-day symposium.
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Reposted by Cambridge Clinical Mitochondrial Research Group
LifeArc @lifearc.bsky.social · 23/03/2026
A years-long diagnostic odyssey is a reality facing many people living with a rare disease. This special @newstatesman1913.bsky.social Spotlight podcast episode explores why. 🎧Listen now: t.ly/flE_n
t.ly
Rare diseases: from lived experience to lasting treatments
Why does diagnosis take so long?
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Cambridge Clinical Mitochondrial Research Group @mitocamb.bsky.social · 19/03/2026
@jellevda.bsky.social @ritahorvath.bsky.social @lilyfoundation.bsky.social @londonmito.bsky.social @mitonewcastle.bsky.social
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Reposted by Cambridge Clinical Mitochondrial Research Group
LifeArc @lifearc.bsky.social · 17/03/2026
More trials, better data, faster access. We worked with Genetic Alliance UK to develop a new report from the LifeArc Translational Centres for Rare Disease Hub, setting out how smarter policy can accelerate rare disease research. Read more 👉 t.ly/LJRi4
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Reposted by Cambridge Clinical Mitochondrial Research Group
The Lily Foundation @lilyfoundation.bsky.social · 17/03/2026
✨ Lily Adult Support Weekend 2026 ✨ We’re delighted to share that our Lily Adult Support Weekend will take place on 14th-16th August 2026 at Chesford Grange Hotel, Kenilworth. Read more: www.thelilyfoundation.org.uk/affect…
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