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ICGNMD

@icgnmd.bsky.social
58 followers 36 following 17 posts

We are the International Centre for Genomic Medicine in Neuromuscular Diseases, we aim to grow knowledge about the global causes of inherited neuromuscular diseases and promote inclusion in research. Welcome!

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ICGNMD @icgnmd.bsky.social · 21/08/2026
Time's almost up to register for the excellent British Myology Society annual meeting at magnificent Worcester College, Oxford. Please share with all muscle disease research colleagues 😀💪 www.eventbrite.co.uk/e/british-my...
eventbrite.co.uk
British Myology Society Annual Meeting 2026
BMS membership required. New members welcome - email cnmd.contact@ucl.ac.uk for joining info.
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ICGNMD @icgnmd.bsky.social · 31/07/2026
So pleased to share this very interesting new publication about Adult SMA in northern India, from the excellent AIIMS, New Delhi team that includes ICGNMD's Dr Vishnu VY, and our colleagues in CCMB and CDFD, Hyderabad. First author Dr Farsana Mustafa. onlinelibrary.wiley.com/doi/epdf/10.... 🥳
onlinelibrary.wiley.com
Spinal Muscular Atrophy in Adult Neurology Services in India
Adult SMA in North India commonly presents as bilateral symmetrical proximal lower-limb weakness and is often misdiagnosed. Genetic confirmation revealed mainly SMA3 with SMN1 deletion and SMN2-relat...
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ucl-qs-cnmd.bsky.social @ucl-qs-cnmd.bsky.social · 30/07/2026
*Save the date* 🗓️ 20th Annual Neuromuscular Translational Research Conference will take place Tuesday 20th and Wednesday 21st April 2027, at the UCL Institute of Child Health in London. More info to follow in coming months.
Delegates seated in lecture theatre
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ICGNMD @icgnmd.bsky.social · 20/07/2026
Here is an interesting new JPNS paper from Brazil and UCL collaborators, describing two instances of late-onset Tay-Sachs disease. onlinelibrary.wiley.com/doi/10.1111/...
onlinelibrary.wiley.com
<em>Journal of the Peripheral Nervous System</em> | PNS Neuroscience Journal | Wiley Online Library
Background Late-onset Tay–Sachs disease (LOTS) is a rare lysosomal disorder that contrasts with the classical infantile form by presenting with milder and heterogeneous neurological manifestations, ...
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ICGNMD @icgnmd.bsky.social · 06/07/2026
The very fit and healthy team here at UCL Queen Square Institute of Neurology are running 10K for the National Brain Appeal this weekend, under a hot sun! Runners include our Director Professor Mike Hanna. Please consider donating to this excellent charity! www.justgiving.com/page/the-nat...
justgiving.com
We are running the Saucony London 10K 2026!
Help The National Brain Appeal Page raise money to support The National Brain Appeal
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ICGNMD @icgnmd.bsky.social · 18/06/2026
The ICGNMD Clinical Fellows worked so hard during the first MRC-funded award, and now two, Dr Rodrigo Frezatti of FAEPA, São Paulo, and Dr Özlem Köken of Akdeniz University, Antalya, have successfully defended their PhD Theses. Congratulations to you both! 🥳🎉🙌 www.ucl.ac.uk/brain-scienc...
ucl.ac.uk
First PhDs awarded to ICGNMD International Clinical Fellows
From 2019 to 2024, the ICGNMD’s first MRC-funded award supported early career clinical fellows around the world to develop clinical academic research expertise in neuromuscular diseases.
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ICGNMD @icgnmd.bsky.social · 23/04/2026
Calling clinicians! Clinical Research Fellowship at UCL Queen Square Institute of Neurology in London, UK to study global causes of inherited NMD. Join our world-leading and supportive team. Closes 07 May. www.ucl.ac.uk/work-at-ucl/...
ucl.ac.uk
UCL – University College London
UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).
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ICGNMD @icgnmd.bsky.social · 04/02/2026
Another opportunity at UCL Queen Square Institute of Neurology in London! Seeking grade 6 Research Technician to work with Prof Houlden and his wonderful team to grow knowledge of global causes of inherited neuromuscular diseases - closes 17 Feb! www.ucl.ac.uk/work-at-ucl/...
ucl.ac.uk
UCL – University College London
UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).
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ICGNMD @icgnmd.bsky.social · 03/02/2026
Look! Clinical Research Fellowship at UCL Queen Square Institute of Neurology in London, UK to study global causes of inherited NMD. Join our world-leading and supportive team. Closes 24 Feb www.ucl.ac.uk/work-at-ucl/...
ucl.ac.uk
UCL – University College London
UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).
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ICGNMD @icgnmd.bsky.social · 23/01/2026
Please spread the word! Great opportunity for bioinformatician to join us at the world-leading UCL Institute of Neurology in London, UK, to research genomics of inherited neuromuscular diseases. www.ucl.ac.uk/work-at-ucl/...
ucl.ac.uk
UCL – University College London
UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).
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ucl-qs-cnmd.bsky.social @ucl-qs-cnmd.bsky.social · 11/12/2025
£500 bursary for early career researchers / AHPs selected for an oral presentation Registration, accommodation and call for abstracts now open! UK Neuromuscular Translational Research Conference 2026 17/18 April, Cambridge, UK Check out our interesting agenda bit.ly/3XOjZF8
Picture of delegates looking at research poster
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ucl-qs-cnmd.bsky.social @ucl-qs-cnmd.bsky.social · 16/12/2025
*New* Clinical Research Fellow vacancy - inherited neuropathies. Based at UCL Queen Square Institute of Neurology. Application Deadline 25/01/26 www.ucl.ac.uk/work-at-ucl/...
ucl.ac.uk
UCL – University College London
UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).
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ICGNMD @icgnmd.bsky.social · 05/12/2025
📣Time to start thinking about abstract submissions and accommodation bookings for UK Neuromuscular Translational Research Conference 2026 17/18 April, Cambridge, UK. Check out the interesting 2026 agenda 📷https://bit.ly/3XOjZF8 (Image: Christin Hume @unsplash)
Image of person typing on laptop. Thanks to Christin Hume for making this photo available on @unsplash
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ucl-qs-cnmd.bsky.social @ucl-qs-cnmd.bsky.social · 24/11/2025
📣📣Registration and call for abstracts now open! UK Neuromuscular Translational Research Conference 2026 17/18 April, Cambridge, UK Our 2026 agenda spans acquired/autoimmune and genetic neuromuscular, neurological and neurodevelopmental conditions bit.ly/3XOjZF8
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London Mitochondrial Centre @londonmito.bsky.social · 21/10/2025
✍️ Apply now! Clinical Fellowship in imaging for evaluation of mitochondrial disease severity, progression, and treatment response, in our excellent & supportive team at UCL Queen Square / UCLH NHS Highly Specialised Service for Rare Mitochondrial Disorders shorturl.at/jaSke
ucl.ac.uk
UCL – University College London
UCL is consistently ranked as one of the top ten universities in the world (QS World University Rankings 2010-2022) and is No.2 in the UK for research power (Research Excellence Framework 2021).
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ICGNMD @icgnmd.bsky.social · 04/08/2025
🤯THREE🤯opportunities to join the Newcastle LifeArc LAC-TreatMito hub, tackling mitochondrial disorders: Research Associate jobs.ncl.ac.uk/job/Newcastl..., Bioinformatician jobs.ncl.ac.uk/job/Newcastl... & Lab Tech Specialist jobs.ncl.ac.uk/job/Newcastl.... Closing soon!
jobs.ncl.ac.uk
Research Associate (Genomics)
Research Associate (Genomics)
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Newcastle Mitochondrial Research Group @mitonewcastle.bsky.social · 26/06/2025
📢 Exciting 3-year funded PhD opportunity 🧠 Prof Bobby McFarland and Dr Laura Smith are advertising for a PhD student to join their lab at the Newcastle Mitochondrial Research Group. 📅 Closing date: 16th July 2025 ⏰ Start date: 15th September 2025 To apply: www.findaphd.com/phds/project...
findaphd.com
PhD studentship - Understanding the causes and identifying treatments for Alpers’ syndrome at Newcastle University on FindAPhD.com
PhD Project - PhD studentship - Understanding the causes and identifying treatments for Alpers&#8217; syndrome at Newcastle University, listed on FindAPhD.com
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Newcastle University @newcastleuni.bsky.social · 17/07/2025
We're proud to announce our work developing a ground-breaking mitochondrial donation IVF treatment has now seen eight healthy babies born 👶 Find out more 👇 www.ncl.ac.uk/press/articl... #WeAreNCL #Health #News #Mitochondria
ncl.ac.uk
Eight babies born after Mitochondrial donation
The UK’s pioneering licensed IVF technique to reduce the risk of mitochondrial diseases carried out in Newcastle has seen eight babies born, published research shows.
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ICGNMD @icgnmd.bsky.social · 17/07/2025
New! Mitochondrial donation to prevent primary mitochondrial disorders. Research to highest standards within exemplary framework. www.nejm.org/doi/full/10.... & www.nejm.org/doi/full/10..... Credit to Newcastle Uni, Lily Foundation & others ‪@mitonewcastle.bsky.social‬ ‪@lilyfoundation.bsky.social‬
lnkd.in
LinkedIn
This link will take you to a page that’s not on LinkedIn
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ucl-qs-cnmd.bsky.social @ucl-qs-cnmd.bsky.social · 04/04/2025
🥼📢👀 New Vacancy: Clinical Research Fellow (Mitochondrial Diseases). Exciting new fellowship role within LifeArc and MDUK-funded Translational Rare Disease Centre to Treat Mitochondrial Diseases UCL Queen Square IoN. Closing date: 24th Apr bit.ly/4ciiC80
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London Mitochondrial Centre @londonmito.bsky.social · 04/04/2025
We are looking for a Clinical Research Fellow to join our team. Please share!
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UCL Queen Square Institute of Neurology @uclqsion.bsky.social · 07/04/2025
Final programme for this event is now available! www.ucl.ac.uk/ion/events/2...
ucl.ac.uk
Inaugural UCL Dystonia Day symposium
The UCL Dystonia Day Symposium seeks to bring basic and clinical researchers together to address this critical question. The Symposium will showcase cutting-edge research from early career researchers...
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bioRxivpreprint @biorxivpreprint.bsky.social · 11/03/2025
🎉 bioRxiv & medRxiv are now managed by openRxiv, a new independent nonprofit. This transition allows for more flexibility and innovation. Our mission remains being a free service to authors ensuring rapid sharing of scientific information before peer review. ℹ️ openrxiv.org/introducing-...
openrxiv.org
Introducing openRxiv: a new independent home for preprint sharing in the life sciences - openRxiv
We’re thrilled to announce the launch of openRxiv as an independent nonprofit to oversee bioRxiv and medRxiv, the world’s leading preprint servers for life and health sciences. openRxiv ensures that r...
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ICGNMD @icgnmd.bsky.social · 20/03/2025
Please share! Exciting post-doc position in the Mitochondrial Research Group at UCL Queen Square Institute of Neurology, London www.ucl.ac.uk/ion/research.... Great team of supportive colleagues, this project could drive meaningful change to patients, closes 8th April www.jobs.ac.uk/job/DMJ082/r...
jobs.ac.uk
Research Fellow at UCL
Explore an exciting academic career as a Research Fellow. Don't miss out on other academic jobs. Click to apply and explore more opportunities.
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ucl-qs-cnmd.bsky.social @ucl-qs-cnmd.bsky.social · 14/03/2025
Still time to register for: bit.ly/49lQiAf UK Neuromuscular Translational Research Conference 15 and 16 April 2025 - a scientific meeting to promote and share cutting edge clinical and scientific advances in the neuromuscular field.
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Rob Pitceathly @robpitceathly.bsky.social · 13/03/2025
It's an honour to take on this responsibility from a great role model such as Linda Greensmith, during an era of groundbreaking research in neuromuscular diseases. I look forward to supporting the success of the department's exceptional PIs, early-/mid-career researchers, staff, and students.
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ICGNMD @icgnmd.bsky.social · 20/03/2025
Please share! Exciting post-doc position in the Mitochondrial Research Group at UCL Queen Square Institute of Neurology, London www.ucl.ac.uk/ion/research.... Great team of supportive colleagues, this project could drive meaningful change to patients, closes 8th April www.jobs.ac.uk/job/DMJ082/r...
jobs.ac.uk
Research Fellow at UCL
Explore an exciting academic career as a Research Fellow. Don't miss out on other academic jobs. Click to apply and explore more opportunities.
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ICGNMD @icgnmd.bsky.social · 28/02/2025
Jasper Morrow, Consultant Neurologist at NHNN and UCL Queen Square Department of Neuromuscular Diseases took part in a patient-led podcast to mark rare diseases day 😀 Here is a link to the website with all the links to the podcast: www.optimumcomms.com/podcast/#epi... Thank you for listening!
optimumcomms.com
Optimum Perspectives Podcast – Optimum Strategic Communications
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ICGNMD @icgnmd.bsky.social · 24/02/2025
ICGNMD colleagues at University of Pretoria and North-West University, Potchefstroom, have published their congenital myopathy cohort data in EJHG! 😀 Thank you to all participant families for contributing to the study. Find their paper here: www.nature.com/articles/s41...
nature.com
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort - European Journal of Human Genetics
European Journal of Human Genetics - Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort
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ICGNMD @icgnmd.bsky.social · 28/11/2024
Delighted this collaborative paper now out from ICGNMD Brazil in Brain Communications! academic.oup.com/braincomms/a...
academic.oup.com
Validate User
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ICGNMD @icgnmd.bsky.social · 15/11/2024
Hello! This is the new account for the ICGNMD, the International Centre for Genomic Medicine in Neuromuscular Diseases - welcome!
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