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.... 🥳

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...

onlinelibrary.wiley.com

*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.

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/...

<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, ...

onlinelibrary.wiley.com

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...

We are running the Saucony London 10K 2026!

Help The National Brain Appeal Page raise money to support The National Brain Appeal

justgiving.com

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...

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.

ucl.ac.uk

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 – 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).

ucl.ac.uk

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/...

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/...

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/...

£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

*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/...

📣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)

📣📣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

✍️ 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 – 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).

ucl.ac.uk

🤯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!

📢 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...

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

findaphd.com

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

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.

ncl.ac.uk

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

🥼📢👀 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

We are looking for a Clinical Research Fellow to join our team. Please share!

@ucl-qs-cnmd.bsky.social · last yr.

🥼📢👀 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

Final programme for this event is now available! www.ucl.ac.uk/ion/events/2...

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...

ucl.ac.uk

Abigail Wilson, PhD@abigaildwilson.bsky.social · last yr.

Come join us on May 14th for the UCL Dystonia Day organised by @jepsonlabucl.bsky.social!

🎉 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-...

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...

openrxiv.org

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...

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.

jobs.ac.uk

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.

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.

UCL Queen Square Institute of Neurology@uclqsion.bsky.social · last yr.

We're delighted to announce that @robpitceathly.bsky.social has been appointed as the new Head of Research Department of Neuromuscular Diseases. He will commence his appointment on the 1st of May 2025. www.ucl.ac.uk/ion/news/202...

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...

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.

jobs.ac.uk

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!

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...

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

nature.com

Delighted this collaborative paper now out from ICGNMD Brazil in Brain Communications! academic.oup.com/braincomms/a...

Hello! This is the new account for the ICGNMD, the International Centre for Genomic Medicine in Neuromuscular Diseases - welcome!