🚨 ⚠️ 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 🌍 👥 Sian Ellard

👉 Out now Nature Reviews Genetics: 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 Australian Genomics Genomics England NHS Genomic Medicine Service AllofUsResearch UK Biobank Our Future Health

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.🧵

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/s4158…

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_ Rocio Rius David R. Thorburn

Up on stage is Prof Rob Taylor and Dr Emma Watson sharing more about genetic #MitochondrialDisease #RDNoE2024

"Equitable access to timely genomic testing for people affected by rare diseases is essential..." Our CEO Sarah Wynn together with Sian Ellard Exeter Rare Disease Taylor Lab wrote for PET : progress.org.uk/rare-disease-g…

Great to see this work finally out Lindsey! Yasmin Tang @MitoMonika Exeter Rare Disease Sian Ellard ExeterGenomes North East & Yorkshire Genomics

Excited to share our latest study led by Lindsey Van Haute out in EMBO Mol. Medicine. Pathogenic variants in PDE12 disrupt mitochondrial RNA processing lead to neonatal mitochondrial disease. Great collaboration with Taylor Lab et al. Congrats! MRC MBU Postdocs embopress.org/doi/full/10.10…

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal #MitochondrialDisease. 🗞️doi.org/10.1038/s44321… By Lindsey Van Haute & colleagues Minczuk Lab Taylor Lab Read related highlight by C. Yu, Marco Tigano & E. Seifert ➡️ doi.org/10.1038/s44321…

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🎉🥳

This short animation (the final one!) explains why a genetic diagnosis of mitochondrial disease is important NHS HSS for Rare Mitochondrial Disorders Oxford London Mitochondrial Centre and Taylor Lab 👨‍🔬 Click the link below for more info! ⬇️ ow.ly/fCw050UiPzB

JWMDRC TREAT-NMD® ICGNMD Taylor Lab @mitoresearch EastAngliaNeurology Horvath Lab MRC MitoCluster London Mitochondrial Centre MRC MBU @neuromusularOT Neuromuscular Rehabilitation Research Group (NMRR) The Neurogenetics Lab ION Neurology Trainees prakash a.s. Cambridge Clinical Mitochondrial Research Group Newcastle Mitochondria and muscle pathology

📢We are hiring a #research coordinator to work on all things MitoCAMB and the LifeArc centre to treat #mito diseases. Rolling recruitment throughout Jan. Apply here: 👉 jobs.cam.ac.uk/job/48491/ 👈 Jelle van den Ameele Horvath Lab The Lily Foundation Robert Pitceathly Taylor Lab MRC MBU

Delighted to contribute to work with Bill Newman and Prokisch Lab and others in identifying DAP3 variants as a cause of #mito disease

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 Newcastle University Taylor Lab Yasmin Tang delineate an essential role for this protein in

Absolutely over the moon to have passed my PhD viva last week! Thank you to my examiners for a great discussion Dylan Ryan 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!

New article by Tang et al: COA5 has an essential role in the early stage of mitochondrial complex IV assembly Newcastle University Taylor Lab Yasmin Tang hubs.ly/Q031R4NV0

Always a warm welcome from friends & colleagues مستشفى الملك فيصل التخصصي ومركز الأبحاث مركز الأبحاث to share our wotk from Newcastle University Faculty of Medical Sciences Newcastle Hospitals North East & Yorkshire Genomics about #mito disease diagnostics

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! 😊