Taylor Lab
@taylorlabncl
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Investigating molecular mechanisms associated with mitochondrial disease and disorders of autophagy @mitoresearch @NewcastleUni @NewcastleHosps @NEYgenomics
Newcastle Upon Tyne, England
Joined February 2024
Excited to share our latest preprint, led by @MitoMonika Rachel Guerra & @mitocollier in collaboration with the Wittig lab & @Pagliarini_Lab
https://t.co/PnFtk6HlFT
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We’re moving! Our lab group feed is moving over to BlueSky for science updates, discussion, and all things mitochondrial! Follow us there to stay connected! 😊
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Always a warm welcome from friends & colleagues @KFSHRC @KFSHRC_Research to share our wotk from @NCL_medscience @NewcastleHosps @NEYGenomics about #mito disease diagnostics
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New article by Tang et al: COA5 has an essential role in the early stage of mitochondrial complex IV assembly @UniofNewcastle @taylorlabncl @yasmintangjx
https://t.co/UBElQJmo6j
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Absolutely over the moon to have passed my PhD viva last week! Thank you to my examiners for a great discussion @RyanLab_MBU and Jim Stewart and my fab supervisors @sarahjpickett, Ollie and Matt for their support over the last 4 years. Excited to see what the next chapter brings!
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https://t.co/YhsIAroUTy The mitochondrial protein COA5 was previously reported as a complex IV assembly factor. Studying a further case of COA5-related mitochondrial disease, the authors @UniofNewcastle @taylorlabncl @yasmintangjx delineate an essential role for this protein in
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Delighted to contribute to work with @GeneticBill and @ProkischLab and others in identifying DAP3 variants as a cause of #mito disease
📢New from @GeneticBill & colleagues 📰Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype https://t.co/0Oi7fJiHZa
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📢We are hiring a #research coordinator to work on all things MitoCAMB and the @lifearc1 centre to treat #mito diseases. Rolling recruitment throughout Jan. Apply here: 👉 https://t.co/dSITzgO3Kp 👈 @Jellevda @HorvathLab @4Lilyfoundation @RobPitceathly @taylorlabncl @MRC_MBU
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@jwmdrc @TREAT_NMD @ICGNMD @taylorlabncl @mitoresearch @EastNeurology @HorvathLab @MRCMitoCluster @LondonMito @MRC_MBU @neuromusularOT @cnmdrehab @IonSynapse @ABNTrainees @bpns @cam_mito @mitomusclelab
Call for abstracts 📋📷The 18th UK Neuromuscular Translational Research Conference 2025 welcomes the submission of abstracts relating to neuromuscular diseases. Deadline 13th Jan 12 Noon Abstract submission instructions, event programme, and registration: https://t.co/DbwsKfmUST
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This short animation (the final one!) explains why a genetic diagnosis of mitochondrial disease is important @ServiceOxford @LondonMito and @taylorlabncl 👨🔬 Click the link below for more info! ⬇️ https://t.co/suNzlwoR5H
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Lovely to see many friends from across the #neuromuscular & #raredisease field -near and far!- here at the Baltic for the 10 year anniversary of the @jwmdrc! We're proudly celebrating our John Walton Centre, which is a cornerstone of our Newcastle Centre for Rare Disease🎉🥳
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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal #MitochondrialDisease. 🗞️ https://t.co/8gGcuMCvWO By @LindseyVanHaute & colleagues @mito_gene @taylorlabncl Read related highlight by C. Yu, @MarcoTigano & E. Seifert ➡️ https://t.co/eUOcePhluy
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Excited to share our latest study led by @LindseyVanHaute out in @EmboMolMed. Pathogenic variants in PDE12 disrupt mitochondrial RNA processing lead to neonatal mitochondrial disease. Great collaboration with @taylorlabncl et al. Congrats! @MBU_postdocs
https://t.co/gyqWwjLL3N
embopress.org
imageimagePathogenic missense variants in the PDE12 gene cause neonatal-onset mitochondrial disease resulting in neurological and muscular disorders. Pathogenic PDE12 variants are associated with...
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Great to see this work finally out Lindsey! @yasmintangjx
@MitoMonika
@RDExeter
@EllardSian
@ExeterGenomes
@NEYGenomics
Proud to announce the publication of our latest paper! Huge thanks to all our collaborators for making this work possible. @Mito_gene @taylorlabncl
#Mitochondria #Research #MitochondrialDisease #RareDiseases
https://t.co/T4XY2aHZLf
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"Equitable access to timely genomic testing for people affected by rare diseases is essential..." Our CEO @swynn_unique together with @EllardSian @RDExeter @taylorlabncl wrote for @PET_BioNews :
progress.org.uk
Promoting timely and equitable access for rare disease genomic testing in the UK and Ireland.
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Up on stage is Prof Rob Taylor and Dr Emma Watson sharing more about genetic #MitochondrialDisease
#RDNoE2024
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How do YOU diagnose #mitochondrial disorders? The Australian Genomics Mitochondrial flagship explores genome/exome-first approach in 140 children and adults with suspected mitochondrial disorders https://t.co/JnprWIRmkq
@Mitochondriac_ @rociorius @thorburn_mito
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Excited to share our @Nature paper introducing constraint metrics for #mtDNA! Constraint models are powerful tools that were missing for mtDNA—until now. By applying our model to #gnomAD, we reveal which sites in mtDNA are most crucial for health & disease
nature.com
Nature - Development of a constraint model specifically for mitochondrial DNA and applied to data from the Genome Aggregation Database provides insights into which sites in the mitochondrial genome...
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The Rare and Inherited Disease NHS Genomic Network of Excellence are holding an inaugural workshop event on Wednesday 6th November in London, where participants will learn more about the network and opportunities for involvement in their work.🧵
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👉 Out now @NatureRevGenet: we CAN and we SHOULD do more to enable #genomic data sharing! 🧬🌏 👉Best practice examples and 12 actions we can all take together 👉 https://t.co/u81JZhxvfX
@GA4GH @AusGenomics @GenomicsEngland @NHSgms @AllofUsResearch @uk_biobank @ukfuturehealth
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🚨 ⚠️ Essential insights for all! Dive into the latest recommendations on genomic testing for rare diseases in the UK & Ireland. An enlightening discussion for any country with a state-funded centralized healthcare systems. Click here 👉 https://t.co/EK2acWP6io 🌍 👥 @EllardSian
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