Cambridge Clinical Mitochondrial Research Group

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

Raising awareness of #mito isn't easy – it’s a complex disease that can be hard to explain 🤔

To help put mito on the map during World Mitochondrial Disease Week, our Research Manager @abioblog.bsky.social is here to explain the disease in a really simple way

Watch, learn and share! 💚

#mitoaware

🎉Today marks one year of the LifeArc Translational Centres for Rare Disease.

These four Centres are breaking down the barriers in rare disease research and accelerating the development of new tests and treatments.

#RareDisease #LifeArcTCRD #OneYearOfImpact

A Publication of interest 🎓 🧬 💚

Organelle-tuning condition robustly fabricates energetic mitochondria for cartilage regeneration. Link to paper: bit.ly/41Xwxg5

MitoWorld Supports Mitochondrial Disease Week

Replication competition drives the selective mtDNA inheritance in Drosophila ovary Zhang et al. report a novel imaging method that can distinguish mtDNA variants with single-nucleotide polymorphisms at single-molecule resolution in situ. Using this method, they visualized dynamics o...

Replication competition drives the selective mtDNA inheritance in Drosophila ovary www.cell.com/cell-reports...

It’s here – World Mitochondrial Disease Week! 💚

We’re proud to collaborate with other mito charities across the UK to put mito on the map – let's spread the word together!

👉 See how you can get involved:
🔗 thelilyfoundation.org.uk/charity/get-involved/world-mitochondrial-disease-week

A discussion about the approval of idebenone for #LHON from the patients’ perspective: www.moorfields.nhs.uk/about-us/new... @moorfieldsbrc.bsky.social @moorfields.bsky.social

NICE Approves New Treatment for Leber Hereditary Optic Neuropathy (LHON) NICE, the National Institute for Health and Care Excellence has recently approved new treatment in England for people living with the eye condition Leber hereditary optic neuropathy (LHON) helped by R...

RNIB Connect Radio’s Toby Davey was joined by Patrick Yu-Wai-Man, Professor of Ophthalmology at the University of Cambridge who was involved in the research into using idebenone to treat Leber hereditary optic neuropathy (LHON). Listen here: audioboom.com/posts/876813...
@lilyfoundation.bsky.social

First ever mitochondrial disease treatment approved by NHS England - NIHR Cambridge Biomedical Research Centre The first ever treatment for a mitochondrial condition has been approved for use on the NHS in England in a major breakthrough in the fight against the disease.

👉 'A huge win for the mito community' First ever treatment for a mitochondrial condition that causes sudden vision loss has been approved for use on the NHS in England!
👉 bit.ly/4oHO8m3

@cuh.nhs.uk @mitocamb.bsky.social @cam.ac.uk @moorfieldsbrc.bsky.social @lilyfoundation.bsky.social

This is amazing news!! @camneurodept.bsky.social @mrc-mbu.bsky.social @jellevda.bsky.social @ritahorvath.bsky.social @mito-news.bsky.social

Catch a glimpse of the much anticipated RAREsummit25 programme. Celebrating 10 years of progress and impact in rare diseases, the UK’s leading multi stakeholder RAREsummit returns to Cambridge

Did you catch the latest about #RAREsummit25? - the programme is shaping up!
RAREsummit alumni, patients pitching research ideas, interactive workshops, networking dinner and more...
Read more here & grab your tickets before they're all snapped up!
www.camraredisease.org/raresummit25...

📢 We are hiring a Senior Research Associate in Bioinformatics & Statistical genetics @cam.ac.uk @mrc-mbu.bsky.social @camneurodept.bsky.social @jellevda.bsky.social It's a great time to join this dynamic and world leading team working on #mitochondria Closes 28/8/25

www.cam.ac.uk/jobs/senior-...

Make an IMPACT - The Lily Foundation Join IMPACT, The Lily Foundation’s virtual committee for those affected by mitochondrial disease. Share your insights to shape research, care and treatments.

Kerry & Jelle discuss developing gene therapies for mitochondrial disease — in collaboration with labs around the world! - Watch the Video
bit.ly/3UCF0kC

🌍Sign up to IMPACT to let your voice be heard
bit.ly/4ohHhiN

Love this! @ritahorvath.bsky.social

How to go about designing a leaflet with patients newly diagnosed with mitochondrial disease - a Video from Heather & Elizabeth bit.ly/475t7em
#Mito #PPIE

We’ve been hearing a lot about #mitochondrialdonation today – but what exactly is it?

It’s a groundbreaking fertility technique that helps women with faulty mitochondrial DNA have healthy babies

Want to understand more? Watch our explainer video 👇
www.thelilyfoundation.org.uk/affected-by-...

Coenzyme Q headgroup intermediates can ameliorate a mitochondrial encephalopathy - Nature Decreased brain coenzyme Q10 levels cause encephalopathy and are associated with neurodegeneration; supplementation with 4-HMA or 4-HB restores coenzyme Q10 synthesis in mice and humans with HPDL vari...

Out now:

rdcu.be/evxCv

We've used CoQ10 headgroup intermediates to treat mouse models of a mitochondrial disease and improve the neurological symptoms of a patient with this disease.

Grateful for funding from @damonrunyon.org , Pershing Square Foundation, @americancancersoc.bsky.social, NIH!

The babies born with DNA from three parents – podcast Doctors in the UK have announced the birth of eight healthy babies after performing a groundbreaking procedure that creates IVF embryos with DNA from three people. Ian Sample tells Madeleine Finlay ab...

Amazing podcast on the mitochondrial donation babies. Great work by wonderful colleagues@mitonewcastle.bsky.social at @newcastleuni.bsky.social and the @lilyfoundation.bsky.social

www.theguardian.com/science/audi...

‘Landmark’ study: three-person IVF leads to eight healthy children Nature - Long-awaited results suggest that mitochondrial donation can prevent babies from inheriting diseases caused by mutant mitochondria.

Long-awaited results suggest that mitochondrial donation can prevent babies from inheriting diseases caused by mutant mitochondria

go.nature.com/44GsxT2

Looking forward to getting involved with this! @ritahorvath.bsky.social