NE&Y GLH Rare Disease Service Lead (Mitochondrial Disease) NIHR fellow - diagnosis of paediatric mitochondrial disease Now CharlotteAlston where skies are blue

Gateshead 👨‍👩‍👦‍👦 🔬 📿
Joined January 2012
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
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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…
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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
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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/
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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!
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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
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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
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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
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🚨 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
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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
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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.
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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.
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Charlotte Alston retweeted
Are you a clinical scientist looking for a new challenge? Look no further ✋🏻 An amazing opportunity to be a part of the scientist team in Exeter, working across all 3 of our specialist services, is open. More info and applications here 👉 vacancies.royaldevon.nhs.uk/…
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Charlotte Alston retweeted
📢 PhD advertisement time - deadline 10/11/23 🧠👁️ work with 'omics datasets from a unique neuronal and ophthalmic tissue bio-repository 💻understand regulators of gene expression and how disruption leads to disease ⭐️co-supervisors incl @nickywhiffin rb.gy/qvjof
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Next is Pravrutha Raman (@PravruthaRaman) from the joint labs of  @HarmitMalik  &  @ToshioTsukiyama @fredhutch, presenting about how evolutionary innovations in eukaryotic histone repertoires drive biological novelties.
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Dear 🇬🇧, As we approach the NHS 75th anniversary, here's your reminder that 10 years ago, it was ranked the #1 healthcare system on Earth. You don't need a new system. You need a new govt that won't intentionally destroy it for their own financial benefit. #SOSNHS #NHS75
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This week: Learn with the experts in our two-week, fully mentored course all about genomic testing in rare disease, including practical information on how to use the National Genomic Test Directory. Sign up and join your cohort today: orlo.uk/XCp93
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This is a balanced and informative article @IrishTimes which clarifies the misuse of the term 3 parent babies when talking about #mitochondrialdonation irishtimes.com/health/2023/0…
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Did you know we're funding an important new research project to improve diagnostic rates for complex cases of #mitochondrialdisease? Learn more about this innovative diagnostic model & how it might help those unable to get a confirmed diagnosis via the NHS thelilyfoundation.org.uk/new…
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