Postdoc position open on ALS gene therapy and RNA splicing, in London! Get in touch if you want to work on novel approaches to correct UNC13A and other splicing alterations induced by TDP-43 pathology: jobs.ac.uk/job/CFN389/res… UCL Queen Square Institute of Neurology UCL Brain Sciences MND Association #MND

Brainstem glucose hypermetabolism in ALS/FTD and shorten survival: a (18)F-FDG PET/MR study dlvr.it/S7SVs5

It's Int. Symposium day! At this year's conference we welcome nearly 1,500 delegates from 44 countries. Beating #MND is a global effort and this week we're bringing together researchers from around the world to share their work. 🔬 symposium.mndassociation.org | #alsmndsymp

Out nature! TDP-43 path induces crucial synaptic UNC13A mis-splicing and loss. ALS risk SNPs exacerbate this, worsening disease progression. We uncover the elusive UNC13A risk SNP mechanism, suggesting patients may do better if we correct UNC13A splicing. nature.com/articles/s4158…

The most powerful feature that Twitter has: Advanced search Until recently I hadn't even heard of it, but now I use it all the time. Here are 6 twitter advanced search features that will revolutionise the way you search for what to read: 🧵👇

Remember we have a Patient day on the 10th July in London at the Navy & Army Club! Please contact us if you wish for more details. #charity #charityevent #londonevent #london #charityfundraiser #charitysupport #kennedysdisease #kennedysdiseaseawareness

On a difficult day for the country, science will keep leading us forward. Join the 3rd symposium of the UCL QS Motor Neuron Disease Centre and our collective effort to understand and cure ALS/MND. (If interested and didn't get the link or it didn't work, please DM) UCL Queen Square Institute of Neurology

Proud to share this first-author paper with Alfredo Iacoangeli Ammar Al-Chalabi, out today in Brain! It calls for a revisitation of UK national genetic testing guidelines for #ALS #MND 🧠🧬 Project MinE King's MND Centre MND Association Institute of Psychiatry, Psychology & Neuroscience NIHR Maudsley Biomedical Research Centre (BRC) doi.org/10.1093/brain/…

Kennedy's disease, caused by a CAG expansion, is considered rare (1:33K males). We found a 1:3K mutation frequency in >110K X chromosomes, predicting a 1:6.8K prevalence. Why this discrepancy? Reduced penetrance or misdiagnosis? check our paper Brain doi.org/10.1093/brain/…

'Junior doctors are the workhorses – the backbone – of hospitals' Worth a read from an anonymous hospital chief executive in the The Guardian theguardian.com/society/2023/m…

Save the date! On Saturday 10th June there is an Alzheimer's Research UK public engagement event at UCL! The The MNP Lab and FrattaLab will be there showing part of the groups' research 🥼🔬 You can find us at stand n°3!! Please, pass by if you are around! eventbrite.com/e/alzheimers-r…

Such a nice experience!!🤩 The Research at ARUK public engagement at UCL was a success! This is our way to explain axonal transport 😂 Thanks to everyone that helped organising this event! The MNP Lab & FrattaLab

POPULATION FREQUENCY OF REPEAT EXPANSIONS INDICATES INCREASED DISEASE PREVALENCE ESTIMATES ACROSS DIFFERENT POPULATIONS medrxiv.org/content/10.110… Finally out! It started a while back kibanez Genomics England GECIP team

Check out our new preprint on generation and characterisation of C9orf72 polyGR and polyPR knock-in mice. A huge effort over many years by Carmelo Milioto and many collaborators incl. Marc Aurel Busche Soyon Hong biorxiv.org/cgi/content/sh… 1/5

New BioRxiv paper on using cryptic splicing to unlock precision gene therapy activation for ALS, FTD & other TDP-opathies! Key contributions Max Z. Y. J. Chien Josette Wlaschin +many others from Claire Le Pichon ule_lab FrattaLab labs and more. A thread 🧵 1/13 biorxiv.org/content/10.110…

We're looking for someone with a creative mindset and excellent modern molecular biology skills (DNA manipulation, Illumina, Nanopore etc) to join our team at UCL and The Crick in the FrattaLab developing candidate gene therapies for ALS. Apply here: jobs.ac.uk/job/DGJ551/res…

#RepeatExpansionDisorders are up to three times more common than current estimates. Underdiagnosis or reduced penetrance? by our wonderful dream team kibanez Matteo Zanovello Chris Clarkson + Bharati Jadhav & Andy Sharp nature.com/articles/s4159…

Tofersen is an effective new treatment for those with the SOD1 genetic variant of motor neurone disease. It works. It can slow progression of their #MND. Join the community and call for NICE to make an exception to its normal criteria. Sign our petition below. #PrescribeLife

Please consider signing the below petition for NICE to change their decision regarding Tofersen, a potentially life-saving treatment for people with SOD1-associated #ALS #MND, so that it can be given the best chance of being made available on the NHS 👇🏾

Great science + lots of fun! 100% recommended