Cambridge Clinical Mitochondrial Research Group

YouTube video by Cambridge Rare Disease Network (CamRARE) RAREsummit25 - Rare Perspectives - Career, Family and Rare Disease Advocacy

We’re excited to share 'Rare Perspectives' - an insightful discussion at #RAREsummit25, where our panelists came together to discuss the realities of both living (and working) rare.
Some members of our audience share their ‘top 5 rare priorities’. What are yours?
youtu.be/jzq7wDS4kFQ
#RareDiseaseDay

To all #mitochondria lovers: Euromit 2026 early-bird registration is coming up!

Very excited for @cuh.nhs.uk and @camneurodept.bsky.social to be involved in this first in human trial: investor.stoketherapeutics.com/news-release...

The Lily Family Support Weekend is a unique opportunity for our families to get together and relax in a safe, caring environment where people just ‘get it’.

Your donations make support weekends as well as vital research possible 🩷

Open letter from Ian Chapman to research and innovation community UKRI Chief Executive outlines changes to UKRI investment approach, addressing concerns about research funding and the financial position of STFC.

Today, we're sharing an open letter from our Chief Executive, Professor Sir Ian Chapman, outlining changes to UKRI investment approach, and addressing concerns about research funding and the financial position of STFC. Read his letter here: www.ukri.org/news/open-le...

Graphic using Rare Disease Day branding. Title CamRARE, living rare. Photos of speakers along the bottom edge of the image, including two young adults.

Join #CamRARE in Cambridge (27 Feb) for #RareDiseaseDay
Through powerful lived-experience stories & a multidisciplinary panel, we’ll explore what it means to live with a rare condition & how systems can better respond throughout a lifetime.
Tickets: camrarerarediseaseday2026.eventbrite.co.uk

Milner Seminars: focus on neurodegeneration 🧠

We're excited to welcome you to our 2026 seminar series! Join us on 27 January for talks by Daniel Tams (Astex) and Stefano Pluchino (University of Cambridge)

🔗 https://milner.glueup.com/event/milner-seminars-focus-on-neurodegeneration-163500/

We have entered our fabulous 'What It Takes' video into the 2026 Smiley Awards, and we need YOU!🩷

For a chance for us to win we need you to vote for us ⬇️
https://smileycharityfilmawards.com/films/what-it-takes

Final week to get your applications in!!

Closes 12/01/2026. A great team and a great centre to be a part of!

@camneurodept.bsky.social @taylorlabncl.bsky.social @jellevda.bsky.social @ritahorvath.bsky.social @robpitceathly.bsky.social

Need a change? Then apply to join our Cambridge team working on #mito disease!

Research coordinator post now live, working with @mitonewcastle.bsky.social @londonmito.bsky.social @lilyfoundation.bsky.social on the @lifearc.bsky.social centre for Rare #mito diseases!

www.cam.ac.uk/jobs/clinica...

Every donation to The Lily Foundation will be matched pound-for-pound, thanks to a group of generous supporters, up to £2,250!

For example
🎁Give £10 → It becomes £20!
🎁Give £20 → It becomes £40!
And so on…

Click here to donate today!
https://www.justgiving.com/campaign/lilychristmas2025

Proteolytic cleavage activates the mitochondrial isoform of TOP3A Abstract. The TOP3A gene encodes two isoforms, one targeted to the nucleus and one to mitochondria. Nuclear TOP3A functions as part of the BTRR complex to

Latest paper in collaboration with the Nicholls lab 🎉 Out in @narjournal.bsky.social
academic.oup.com/nar/article/...

This ‘fundamental’ study uncovers how directing pyruvate into mitochondria can shrink cells by shifting their metabolism away from building amino acids and proteins.
buff.ly/hFHjKy9

Some amazing work that's all over the News this morning. This important work is co-funded by @lifearc.bsky.social who also co-fund our LifeArc Centre for Rare Mitochondrial Diseases bit.ly/4moq7xV

#rarediseases #LifeArc

👁️ 23 November: ADOA Awareness Day 🌍
On Sunday 23 November it’s ADOA Awareness Day!
A day for raising global awareness for the hereditary eye conditions ADOA and ADOA-plus.
You can help The Cure ADOA Foundation increase awareness of ADOA by sharing this post.
bit.ly/4o5iLzY
#ADOAawarenessDay

🎙️ Focus Speakers – Rita Horvath
👀 Curious to know who will be speaking at #euromit2026
✨ Today, we’re introducing Rita Horvath.
👉 Stay tuned: every week for a month, new speakers will be featured.
#euromit2026 #speakers #mitochondria #angers #scienceconference

Image of Professor Michal Minczuk and his biography. Michal Minczuk will be speaking at Euromit on Wednesday 3 of June 2026 during the Session 5 entiteld "Innovative technologies". Michal Minczuk is a professor of Mitochondrial Genetics in the Department of Clinical Neurosciences at the University of Cambridge, UK. His research is focused on mitochondrial genetics, as well as on the development of innovative genome engineering technologies, to bring future therapies for diseases caused by mitochondrial dysfunction.

🎙️ Focus Speakers – Michal Minczuk
@mitogene.bsky.social

👀 Curious to know who will be speaking at #euromit2026 ?
✨ Today, we’re introducing Michal Minczuk who will be taking the stage at the congress.
#euromit2026 #mitochondria #angers @univangers.bsky.social @ua-recherche.bsky.social

Ubiquitin-mediated mitophagy regulates the inheritance of mitochondrial DNA mutations - PubMed Mitochondrial synthesis of adenosine triphosphate is essential for eukaryotic life but is dependent on the cooperation of two genomes: nuclear and mitochondrial DNA (mtDNA). mtDNA mutates ~15 times as...

📢 Check out this exciting new study by Professor Patrick Chinnery from @mrc-mbu.bsky.social, who will be joining #Euromit2026 as keynote speaker!

pubmed.ncbi.nlm.nih.gov/41066576/

#MitochondrialDisease #mtDNA #mitochondria #euromit2026
@ua-recherche.bsky.social @chuangers.bsky.social

A group of us from the LifeArc Centre for Rare Mitochondrial Diseases bit.ly/4moq7xV attended the LifeArc Translational Centres for Rare Diseases Annual Showcase yesterday @lifearc.bsky.social. Great to make connections and share knowledge with the other rare disease centres
#LifeArc #rarediseases

YouTube video by The Lily Foundation The recipe for explaining how mitochondrial disease is diagnosed #mito #geneticdisorder #raredisease

A brilliant explainer from The Lily Foundation on the science behind genetic diagnosis in mitochondrial disease — featuring cake as a metaphor! 🍰
youtu.be/MCx4joZJtFY

#Mito #MitochondrialDisease #GeneticTesting #RareDisease #ClinicalResearch #TheLilyFoundation

So great to hear about some of the amazing work being done at the MRC Mitochondrial Biology Unit @mrc-mbu.bsky.social yesterday. There is much more today too.

Hopefully you have been able to catch up with some of the latest in #Mito research.

Open to MRC MBU members only.

Congrats Michele! Great work! @jellevda.bsky.social @mrc-mbu.bsky.social @mbu-postdocs.bsky.social

👁️Today is World Sight Day – and we’re proud to reshare some incredible news for the mito community. Idebenone is now available for patients with LHON – a breakthrough that could help preserve vision and improve lives.

📖 Read Mary’s story to learn more: https://ow.ly/MZhL50X3wtH

Seconded!!

Congratulations to @lucialugut.bsky.social who passed her PhD with flying colours last week; and with no thesis corrections ☺️🎓👏

🔬 Supporting medical research into mitochondrial disease is at the heart of our mission.

Explore our past and current research projects - https://www.thelilyfoundation.org.uk/affected-by-mito/our-research/lily-funded-research-projects/

Together, we’re driving hope through science. 💚

@lilyfoundation.bsky.social @ritahorvath.bsky.social @jellevda.bsky.social @mitowomen.bsky.social @camneuro.bsky.social @uclqsion.bsky.social @mitonewcastle.bsky.social @mrc-mbu.bsky.social @camneurodept.bsky.social @cambridge-scm.bsky.social @londonmito.bsky.social @needhamneuro.bsky.social

📢 We are recruiting a post-doctoral clinical research associate to join the @lifearc.bsky.social Centre for Rare #Mitochondrial Diseases, supported by @mdukcharity.bsky.social It's an exciting time in mito research! For further details and to apply visit: www.cam.ac.uk/jobs/clinica...

LifeArc Translational Centres for Rare Diseases Enjoy the videos and music you love, upload original content, and share it all with friends, family, and the world on YouTube.

Rare disease is collectively common, affecting ~1 in 17 people in the UK.

The LifeArc Translational Centres for Rare Disease each tackle a different area of unmet need, but together they're building a stronger rare disease research ecosystem.

Learn more: https://t.ly/zAEj-

#LifeArcTCRD