On my first @LumoTravel train home from London! Had a lovely time at @PacBio HQ - thanks for having us
📢 Lovely piece of work from @taylorlabncl @mitocollier @MitoMonika @Pagliarini_Lab and others characterising a novel complex I assembly factor. Preprint out now!! 🎉🎉
Excited to share our latest preprint, led by @MitoMonika Rachel Guerra & @mitocollier in collaboration with the Wittig lab & @Pagliarini_Lab
biorxiv.org/cgi/content/shor…
Charlotte Alston retweeted
@sarahjpickett from @MitoResearch outlining her team’s research to understand the role of nuclear genetic variation in shaping mtDNA disease phenotypes @AoPgbi in #newcastle
Charlotte Alston retweeted
📣 I’m looking for a postdoc to work on exciting computational projects in mitochondrial genomics @YaleGenetics! Interested in human genomics, #mtDNA & improving our ability to link genetic variation to disease? Reach out or find me at #ESHG24!
Details 👉 thelakelab.org/yale-genetics…
Proud to have been a part of this collaborative effort with @andrew_sung @Pagliarini_Lab and @taylorlabncl - through DMS, a diagnostic resource to predict the functional consequence of NDUFAF6 variants has come to life.
Mitochondrial complex I construction relies on a patchwork of poorly defined "assembly factors." In work led by @andrew_sung, we used deep mutational scanning to elucidate NDUFAF6 function and predict variant pathogenicity.
@taylorlabncl
@melogrammatical
nature.com/articles/s42255-0…
Charlotte Alston retweeted
Each year, around 6,000 children are born in the UK with a genetic condition that will likely remain undiagnosed.
Today on Undiagnosed Children's Day, we're highlighting @SWAN_UK, a support community for families affected by a syndrome without a name.
ow.ly/wgKu50RfYMa

ALT Graphic of a little girl with dark brown hair wearing a bright pink top. Only her head and shoulders are visible, and she has a sad expression on her face. Bright pink background matches the brand colour of SWAN UK, and white text above the girl reads; "without a diagnosis, it can be hard to access support."
Charlotte Alston retweeted
Today, April 26, is Undiagnosed Children’s Day, an annual awareness day founded by @GeneticAll_UK @SWAN_UK to spread the word about what it means to be affected by a syndrome without a name, also known as an undiagnosed genetic condition geneticalliance.org.uk/
Oh heck. A belated happy #WorldLabDay to you all! For everyone who puts patients at the heart of everything they do: you've got this 💪
We had the opportunity to join DxNE last week to talk about the work we do as the highly specialised Mitochondrial diagnostic service. Thanks for having us! ❤️
Did you enjoy last weeks conference? We certainly did! 🙌Our post event report is now on our website with photos below. #DxNEConf24. Don't forget to give feedback!
Read our report 👇diagnosticsnortheast.org.uk/…
Feedback form 👇 forms.office.com/r/1RFg2VumW…
Charlotte Alston retweeted
As part of #DNADay24, we celebrate Rosalind Franklin for her work and influence in science. Thanks to Franklin, we have the historic Photo 51, which revealed that DNA indeed has a double helix shape!
Charlotte Alston retweeted
Great to be able to share our experience of innovation in Mito diagnostics with Dr Emma Watson and @melogrammatical Dr Charlotte Alston #DxNEConf24
Our first round of breakout sessions are well underway including sessions on the role of pathology in clinical trials, building a highly specialised lab service and where might my test work? – use cases and care pathway.
#DxNEConf24
Charlotte Alston retweeted
Two of our PhD students, @4Lilyfoundation funded Jamie Leighton and Lucie Taylor @lucieshell had the pleasure of presenting early career work at The 17th UK Neuromuscular Translational Research Conference
@ICGNMD @UCL_QS_CNMD
So pleased to have our PhD students @lucieshell and @4Lilyfoundation funded Jamie presenting their data at the UK Neuromuscular Translational meeting in London @ICGNMD :) Very proud of them 💪
Charlotte Alston retweeted
Amazing progress developing disease modifying therapies in neuromuscular diseases since we started our national conference now in its 17th year! latest translational science over next 2 days! @uclh @UCLBrainScience @MDUK_News @The_MRC @UCLIoN
So proud to work with my research group on #RareDiseasesDay. Our mission is to establish a diagnosis for as many children with suspected mitochondrial disease as we can. Often this is challenging but we are inspired by the families waiting for answers. @dania_hammadi @lucieshell
Charlotte Alston retweeted
🚨 IT’S RARE DISEASE DAY! 🚨
For #RareDiseaseDay 2024 we're highlighting key facts and figures to educate change makers on the shared challenges of our community. Alongside these we will share the #StoriesBehindTheStats.
👉 ow.ly/4j7E50QIXEY
Charlotte Alston retweeted
On #RareDiseaseDay we're is proud to introduce #LilyFoundation 's newest #research recruit, Jamie @mitoresearch Find out what first inspired Jamie to work in the field of rare diseases, & why it’s so important for us to keep spreading the word about #mito
ow.ly/rIlM50QGEwv
Charlotte Alston retweeted
The moving speech of Harry Leslie Smith to the Labour Party Conference reminding people of what life was like before the NHS when working class people suffered and died in agony in their own homes for want of money to pay for treatment.
Charlotte Alston retweeted
A new @NEYGenomics vacancy to work on genomics R&D projects in the NHS. A great opportunity to join the NEY GLH and work @LeedsHospitals. Please note the rapidly approaching closing date of the 14th February.


































