ICGNMD

ICGNMD

@icgnmd.bsky.social

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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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.comSpinal Muscular Atrophy in Adult Neurology Services in IndiaAdult 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...

ICGNMD reposted

*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.

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.ukFirst PhDs awarded to ICGNMD International Clinical FellowsFrom 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.

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.ukUCL – University College LondonUCL 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).

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.ukUCL – University College LondonUCL 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).

📣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)

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✍️ 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.ukUCL – University College LondonUCL 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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We are looking for a Clinical Research Fellow to join our team. Please share!

ucl-qs-cnmd.bsky.social@ucl-qs-cnmd.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

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ICGNMD reposted

🎉 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.orgIntroducing openRxiv: a new independent home for preprint sharing in the life sciences - openRxivWe’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...

ICGNMD reposted

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.ukResearch Fellow at UCLExplore 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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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.

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...

jobs.ac.ukResearch Fellow at UCLExplore an exciting academic career as a Research Fellow. Don't miss out on other academic jobs. Click to apply and explore more opportunities.

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.comBiallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort - European Journal of Human GeneticsEuropean 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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