We're proud to announce our work developing a ground-breaking mitochondrial donation IVF treatment has now seen eight healthy babies born 👶 Find out more 👇 www.ncl.ac.uk/press/articl... #WeAreNCL #Health #News #Mitochondria

Eight babies born after Mitochondrial donation

The UK’s pioneering licensed IVF technique to reduce the risk of mitochondrial diseases carried out in Newcastle has seen eight babies born, published research shows.

ncl.ac.uk

📢 Exciting 3-year funded PhD opportunity 🧠 Prof Bobby McFarland and Dr Laura Smith are advertising for a PhD student to join their lab at the Newcastle Mitochondrial Research Group. 📅 Closing date: 16th July 2025 ⏰ Start date: 15th September 2025 To apply: www.findaphd.com/phds/project...

PhD studentship - Understanding the causes and identifying treatments for Alpers’ syndrome at Newcastle University on FindAPhD.com

PhD Project - PhD studentship - Understanding the causes and identifying treatments for Alpers’ syndrome at Newcastle University, listed on FindAPhD.com

findaphd.com

Super important work from @hantonicka.bsky.social and collaborators describing a new #mitochondrialdisease gene association 🧬✊🏽🌟

The American Journal of Human Genetics@ajhgnews.bsky.social · last yr.

📣New from @hantonicka.bsky.social & co 📄Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome

Coverage of this important work led by @daniellahock.bsky.social and @dstroudlab.bsky.social who support our @lifearc.bsky.social research to replicate this @medicalsciencesncl.bsky.social @neygenomics.bsky.social @mitocamb.bsky.social @londonmito.bsky.social @lilyfoundation.bsky.social

The Guardian@theguardian.com · last yr.

Blood test developed that could speed up diagnosis of rare diseases in babies

And some more @mitochondrially.bsky.social @zornitza.bsky.social @taylorlabncl.bsky.social @mike-ryan.bsky.social @drlukeyform.bsky.social @nikeishacaruana.bsky.social @nicolelake.bsky.social plus an AAP article!

Rare genetic diseases rapidly detected under new test

Researchers have developed a new blood test capable of rapidly diagnosing rare genetic diseases in babies and children.

aapnews.aap.com.au

We're super proud to see our study showing utility of proteomics in ultra-rapid variant prioritisation for suspected mito and other rare diseases out in Genome Medicine (rdcu.be/endwE). Too many amazing collabs to thank, so here are the big ones @daniellahock.bsky.social @thorburnmito.bsky.social!

Cutting the diagnosis journey for children born with rare genetic diseases

Families can wait years for a diagnosis of a rare genetic disorder, but a new test can provide answers in days for a better understanding of the condition and potentially earlier treatment, finds new...

pursuit.unimelb.edu.au

More from the fantastic team @lilyfoundation.bsky.social about the new, collaborative translational @lifearc.bsky.social Centre for Rare Mitochondrial Diseases 🌟

The Lily Foundation@lilyfoundation.bsky.social · last yr.

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-...

Enjoying a few days talking mitochondria in the beautiful city of Genoa ☀️🇮🇹

Molecular machineries shaping the mitochondrial inner membrane www.nature.com/articles/s41...

Molecular machineries shaping the mitochondrial inner membrane - Nature Reviews Molecular Cell Biology

The inner mitochondrial membrane forms cristae, which are crucial for mitochondrial function. This Review explores the protein complexes that regulate cristae dynamics, including remodelling and fusio...

nature.com

What to find the Bluesky acount for one of our researchers? Here' a handy-dandy starter pack for you. go.bsky.app/98NSnmp

@newcastleuni.bsky.social @nihrnewcastlebrc.bsky.social @medicalsciencesncl.bsky.social @neygenomics.bsky.social

Newcastle Mitochondrial Research Group@mitonewcastle.bsky.social · last yr.

We are excited to join friends and colleagues from @lilyfoundation.bsky.social , @mdukcharity.bsky.social , @uniofcam.bsky.social and @ucl.ac.uk at the House of Lords to launch the new LifeArc Centre for Rare Mitochondrial Disease #mitodisease

Great to be working alongside @mitocamb.bsky.social @ucl-qs-cnmd.bsky.social @lilyfoundation.bsky.social and @mitonewcastle.bsky.social colleagues in this new Centre!

The Lily Foundation@lilyfoundation.bsky.social · last yr.

We’re proud that the @lifearc.bsky.social Centre for Rare Mitochondrial Diseases has officially launched at a prestigious House of Lords event – a significant milestone in transforming the UK’s rare disease research landscape Stay tuned to meet the lead minds behind the centre on our Research Zone!

Such a great day and opportunity to work together as a UK mitochondrial research community going forward! @mitonewcastle.bsky.social @drperscitus.bsky.social @sarahjpickett.bsky.social @mtrost.bsky.social @jim-ca.bsky.social @newcastleuni.bsky.social @medicalsciencesncl.bsky.social

Cambridge Clinical Mitochondrial Research Group@mitocamb.bsky.social · last yr.

It was a great day and a fantastic #PPIE workshop!! @lifearc.bsky.social @ritahorvath.bsky.social @jellevda.bsky.social @robpitceathly.bsky.social @taylorlabncl.bsky.social @dwong47.bsky.social @mitogene.bsky.social @mrc-mbu.bsky.social @mitonewcastle.bsky.social @uclqsion.bsky.social

Please share! Exciting post-doc position in the Mitochondrial Research Group at UCL Queen Square Institute of Neurology, London www.ucl.ac.uk/ion/research.... Great team of supportive colleagues, this project could drive meaningful change to patients, closes 8th April www.jobs.ac.uk/job/DMJ082/r...

Research Fellow at UCL

Explore an exciting academic career as a Research Fellow. Don't miss out on other academic jobs. Click to apply and explore more opportunities.

jobs.ac.uk

Still time to register for: bit.ly/49lQiAf UK Neuromuscular Translational Research Conference 15 and 16 April 2025 - a scientific meeting to promote and share cutting edge clinical and scientific advances in the neuromuscular field.

Great talks at a cool venue! Delighted to contribute to the Clinical Genetics Society conference in #Sheffield presenting our work on the application of #technologies to leverage #mitodisease diagnoses

Congrats to Dr James Lambton for defending his PhD in Newcastle this week 🎓 Neuronal #iPSC models of ATG7-related #autophagy disorders & a newly-identified disease gene. Thanks to Ian Ganley & Marzena Kurzawa-Akanbi for examining, and Monika Winter & @lindalako.bsky.social for co-supervision ✊🏽🌟

NDUFA13, a mitochondrial complex I subunit, was linked to complex I deficiency in only 3 patients. We now report 10 more cases, expanding the phenotypic spectrum, consolidating its role, & comparing it with other complex I deficiency subtypes. Please Check our paper: academic.oup.com/braincomms/a...

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment

Kaiyrzhanov et al. provide a cumulative phenotype characterization of NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13 (NDUFA13)-related disease descri

academic.oup.com

Expanding the molecular basis of #mitochondrial genetic disease! Thanks to Bill Newman, Ray O’Keefe and colleagues from @mft-imrare.bsky.social for leading this international collaborative study #raredisease #diagnostics #mitochondrialdisease

The American Journal of Human Genetics@ajhgnews.bsky.social · last yr.

📣Online now! 📄Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

Many congratulations Jon! 🌟

MitoStarsLab@richterlab.bsky.social · last yr.

🍾Bursting with pride and joy! Watching you grow as a scientist and individual has been incredible. Congrats, Jon, on truly earning your 🎓PhD! Thanks to all the amazing support @taylorlabncl.bsky.social @cgm-newcastle.bsky.social @mitonewcastle.bsky.social and examiners Ray O’Keefe and Tom Nicholls!

🌏RARE DISEASE DAY! Here at the Newcastle Mitochondrial Research Group, we are proud to be working with many rare disease communities 💜 @lilyfoundation.bsky.social

Rare Disease Day Today, we recognise the 300 million people worldwide living with #RareDisease 💜 Check out these upcoming local events to learn more—details in the posters below! #RareDiseaseDay #ShareYourColours