On my first @LumoTravel train home from London! Had a lovely time at @PacBio HQ - thanks for having us
English
Charlotte Alston
1.5K posts
Charlotte Alston
@melogrammatical
NE&Y GLH Rare Disease Service Lead (Mitochondrial Disease) NIHR fellow - diagnosis of paediatric mitochondrial disease Now CharlotteAlston where skies are blue
Gateshead 👨👩👦👦 🔬 📿 Katılım Ocak 2012
835 Takip Edilen404 Takipçiler
@criminographer I am so very sorry for your loss. For Alexander and for Isabelle. What beautiful little souls they are 💔
English
We are devastated to say that our beautiful Isabelle died in the early hours of this morning. We are absolutely broken. However, we want you all not to think of her death, but to honour her by living life as she did: fearlessly, joyously & spontaneously.
English
📢 Lovely piece of work from @taylorlabncl @mitocollier @MitoMonika @Pagliarini_Lab and others characterising a novel complex I assembly factor. Preprint out now!! 🎉🎉
Taylor Lab@taylorlabncl
Excited to share our latest preprint, led by @MitoMonika Rachel Guerra & @mitocollier in collaboration with the Wittig lab & @Pagliarini_Lab biorxiv.org/cgi/content/sh…
English
Excited to share that I passed my PhD viva! What an amazing journey it’s been. Thank you to my supervisors & fab lab for your support & friendship over the years. Thanks to my examiners for the interesting & enjoyable discussion. Here’s to the next chapter as Dr Fullerton!🥼🍾
English
English
@ewanbirney Following along remotely and there it is, our @nanopore RPGR paper on the big screen. Thanks Lyn!
English
LC: "dark regions" of the genome solving genes, for example RPGR gene with the hard to sequence region for short read sequencing here (Editorial - this is case where long reads sees deeper into the coding than short reads with clinical consequences) #nanoporeconf
English
@taylorlabncl delivering a great talk on macroautophagy defects at the #APAM2024 @AoPgbi meeting in Newcastle. Shout outs to @mitocollier and @Jameslambton1 who did much of the heavy lifting :)
English
Charlotte Alston retweetledi
@sarahjpickett from @MitoResearch outlining her team’s research to understand the role of nuclear genetic variation in shaping mtDNA disease phenotypes @AoPgbi in #newcastle
English
Charlotte Alston retweetledi
📣 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-…
English
English
🏆 Congratulations to Prof Bill Newman @GeneticBill and members of the PALOH study team on winning an @OfficialUoM Making a Difference Award! 🎉
They developed the world’s first bedside genetic test to prevent babies going deaf, following research supported by Manchester BRC.
Social Responsibility@SocialResponUoM
The second emerging impact winner award goes to the @PALOH_Study team for developing the world’s first bedside genetic test to prevent babies going deaf. @NIHRresearch @RNID @ManchesterBRC @FBMH_UoM @FBMH_SR #MaDAwards
English
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.
Pagliarini Lab@Pagliarini_Lab
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/s4225…
English
@mancunianmedic I wrote two cheques only this morning 😂😂 It was for school photos, the only time I ever use my chequebook because it's easier than filling out all the digits of my credit card. Twice.
English
18!
Although i don't know what a "My space account" or "Columbia House" are
Claire Harrison Page@ClaireH38655873
12 !!!
English
Charlotte Alston retweetledi
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
English
Charlotte Alston retweetledi
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
English
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 💪
English
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! ❤️
Diagnostics North East@DiagnosticsNE
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/diagnostics-no… Feedback form 👇 forms.office.com/r/1RFg2VumWs
English
Charlotte Alston retweetledi
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!
English
@Patrick62253207 I'm so sorry to hear of your loss Paddy. My thoughts and prayers are with you all 💔
English
IT IS WITH DEVASTATING SADNESS THAT I MUST TELL YOU ALL. AT 7AM SUE HAD A CARDIAC ARREST THEN 7:30 AM WAS PRONOUNCED DEAD. THE LOVE OF MY LIFE AND REASON FOR LIVING IS NO MORE.
IM NOT SURE WHAT I M DOING TO DO TODAY
Gateshead, England 🇬🇧 English
Official opening of college building named after MBU Director! 😎
Congratulations Judy!
@GreenheadCol
English