Investigating molecular mechanisms associated with mitochondrial disease and disorders of autophagy @mitoresearch @NewcastleUni @NewcastleHosps @NEYgenomics
Newcastle Upon Tyne, England
Joined February 2024
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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…
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! 😊
Always a warm welcome from friends & colleagues @KFSHRC @KFSHRC_Research to share our wotk from @NCL_medscience @NewcastleHosps @NEYGenomics about #mito disease diagnostics
Taylor Lab retweeted
New article by Tang et al:
COA5 has an essential role in the early stage of mitochondrial complex IV assembly
@UniofNewcastle @taylorlabncl @yasmintangjx
hubs.ly/Q031R4NV0
Taylor Lab retweeted
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!
Taylor Lab retweeted
bit.ly/3We9B9n 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 the early stage of complex IV assembly
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
cell.com/ajhg/fulltext/S0002…
Taylor Lab retweeted
📢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: 👉 jobs.cam.ac.uk/job/48491/ 👈
@Jellevda @HorvathLab @4Lilyfoundation @RobPitceathly @taylorlabncl @MRC_MBU
Taylor Lab retweeted
@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: bit.ly/49lQiAf
Taylor Lab retweeted
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! ⬇️
ow.ly/fCw050UiPzB
Taylor Lab retweeted
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🎉🥳
Taylor Lab retweeted
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal #MitochondrialDisease.
🗞️doi.org/10.1038/s44321-024-0…
By @LindseyVanHaute & colleagues @mito_gene @taylorlabncl
Read related highlight by C. Yu, @MarcoTigano & E. Seifert ➡️ doi.org/10.1038/s44321-024-0…
Taylor Lab retweeted
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
embopress.org/doi/full/10.10…
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
embopress.org/doi/full/10.10…
Taylor Lab retweeted
"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/rare-disease…
Taylor Lab retweeted
Up on stage is Prof Rob Taylor and Dr Emma Watson sharing more about genetic #MitochondrialDisease
#RDNoE2024
Taylor Lab retweeted
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 bit.ly/3Uvo5AW @Mitochondriac_ @rociorius @thorburn_mito
ALT Graphical Abstract contains the following elements: Top text: Australian Genomic Mitochondrial Flagship text flowchart reads 140 individuals with suspected mitochondrial disease --> GS/ES+mtDNA sequencing --> Diagnostic yield Left hand circle beside clip art of an infant and text reading "Pediatric onset" reads 71% with an arrow pointing down at mtDNA next to an indicator reading 22%, and nuclear DNA next to an indicator reading 78% Right hand circle beside clip art of an adult and text reading "Adult onset" reads 31% with an arrow pointing down at mtDNA next to an indicator reading 29%, and nuclear DNA next to an indicator reading 71%
Taylor Lab retweeted
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/articles/s41586-0…
Taylor Lab retweeted
👉 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
👉 rdcu.be/dWfsu
@GA4GH @AusGenomics @GenomicsEngland @NHSgms @AllofUsResearch @uk_biobank @ukfuturehealth
Taylor Lab retweeted
🚨 ⚠️ 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 👉 bit.ly/4dyMbRQ 🌍
👥 @EllardSian @AnaJuett @RDExeter @taylorlabncl @acgs_news
