ICGNMD
@ICGNMD
The International Centre for Genomic Medicine in Neuromuscular Diseases (ICGNMD): an international NMD cohort & training in NMD genomic medicine.
Yey, this standard link should now be open access 🥳
So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in @Nature nature.com/articles/s4158… 🧵 1/16
We are pleased to share an exciting new clinical PhD opportunity for a clinician with a neurology background to join the London Mitochondrial Team, focusing on innovative MRI techniques in mitochondrial disease. ucl.ac.uk/work-at-ucl/se…
From driving research to fostering partnerships, @UCL and India work together to create innovative solutions for a sustainable future 🇮🇳 We also enjoyed reconnecting with students, alumni, philanthropists, and partners across the country ⬇️ #UCLandIndia bit.ly/3CJzkj8
Delighted this collaborative paper now out from ICGNMD Brazil in Brain Communications! academic.oup.com/braincomms/art… @MikeHanna18 @UCL_QS_CNMD @pjtomas32 @taylorlabncl @RobPitceathly
Finally #WMS2028 is coming to NewDelhi, India. Great opportunity for everyone working in NMD esp in global south. Many thanks @WorldMuscleSoc & all members who supported our bid! Grateful for support from IAN, Nerve Muscle Society @aiims_newdelhi @neuro_ian @AiimsCnmd @ICGNMD
Hello, we have a new updates page! Please also find us on @icgnmd.bsky.social. Thank you!
New research led by @Naaheed_Mukadam (@UCLPsychiatry) suggests that public health interventions such as reducing sugar/salt intake, improving air quality & making bike helmets compulsory for children could save £4bn in England by lowering dementia risk. bit.ly/3yyI7CE
ICGNMD Stellenbosch (S. Africa) team and study participants expanding phenotype of PEX11B pathogenic variants with a novel variant: …mentdisorders.onlinelibrary.wiley.com/doi/10.1002/md… @franclo_henning @UCL_QS_CNMD
Our surgical technology group are launching their video collection detailing their fantastic research portfolio at Queen Square
We're delighted to launch an exciting collection of regular videos highlighting the cutting-edge research performed within our group, combining neurosurgery, robotics, artificial intelligence, neurotechnology, simulation and more! Kicking things off, group lead Mr @hani_marcus!
Congratulations to Professor Mary Reilly on winning the Alan J. Gebhart Prize for Excellence in Peripheral Nerve Research! This award recognises her impactful work in genetic neuropathies and her drive to improve the lives of those with peripheral neuropathies.
A quick reminder to register for this key event in November!
QSMSC “Multiple Sclerosis Clinical Update” 2-Day course is taking place Online this year, on Thursday 7th and Friday 8th November, via Zoom webinar. Information page: ucl.ac.uk/ion/study/virt… Course will be accessible for both specialist and non-specialist healthcare professionals
Applications are open for the DS-I Africa funded MSc in Computational health Informatics at UCT. Deadline for applications is 31st August.
Great collaborative effort! Special thanks to Andrea Cortese for his excellent work. More to come! @UCL_QS_CNMD @UCLIoN @IonSynapse
QSMSC “Multiple Sclerosis Clinical Update” 2-Day course is taking place Online this year, on Thursday 7th and Friday 8th November, via Zoom webinar. Information page: ucl.ac.uk/ion/study/virt… Course will be accessible for both specialist and non-specialist healthcare professionals
Read all about our novel findings relating to the genetics, biochemistry, and molecular biology of TRMT1-linked ID and NDD syndrome. A great collaboration between our lab @IonSynapse and the @dragonyFu lab and @varshneylab 🧬
Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder medrxiv.org/cgi/content/sh… #medRxiv
The British Myology Society Paediatric Muscle Teaching Day is 16 September, before BMS Annual Meeting. Event aimed at junior/early career clinicians with neuromuscular interests. Some free places/bursaries available. Register at eventbrite.co.uk/e/bms-paediatr…
The excellent British Myology Annual Meeting 2024 is on 16/17 September in beautiful Oxford. Register here: eventbrite.co.uk/e/british-myol…. Meeting open to BMS members, registration for new members is easy!
Today we welcomed Minster Baroness Merron & Prof @LucyChappell2, Chief Scientific Adviser @DHSCgovuk to @UCL. The visit included talking to staff & students at Zebrafish Lab @realRihellab, UK Dementia Research Unit @UKDRI & Alzheimer’s Research UK Drug Discovery @ARUK_UCL_DDI
Our Mouse Models for Human Disease Workshop is a 5-day course to allow us to deliver much more than just one element of mouse genetics - we're able to talk our way through the whole of a project. Visit our website for more info and to apply by 31st July! har.mrc.ac.uk/training/cours…
Looking forward to learning about Myasthenia, Neuropathies, Mito, SMA, DMD, Muscular Dystrophies and much more at the BMS Paediatric Muscle Teaching Day 2024 - full programme eventbrite.co.uk/e/945587386327… - still time to register! 16th Sept 2024🧑🎓👩🔬🙋
A lovely piece on the impact of our work by @iansample @guardian including a lovely quote from an RNU4-2 mum: "This where the data meets real life. We like to refer to RNU4-2 as “renew”, as our family is being renewed by this new information and hope for the future.” ❤️
Scientists uncover genetic disorder that may affect thousands around world dlvr.it/T9SXM3