Danielle Leighton

Tofersen, a breakthrough drug for people with the form of motor neuron disease caused by genetic changes in the SOD1 gene, is now a step closer to being approved, following a change in how NICE will assess the treatment. More details 👇 myname5doddie.co.uk/whats-on/artic…

Closing 28 Nov 2024. Ideally suited for a postdoc wanting to perform a CRISPR screen in stem-cell derived motor neurons to find new targets for C9ORF72-ALS.

@jennagregory488 @GregoryLab7 Fantastic news!! So pleased and proud of you 🌟

Exciting bit of news from the @GregoryLab7 - I have just been promoted to Clinical Professor 🤓❤️🤩🌟🥂🍾

Dr. Jenna Gregory is investigating how reactivating exhausted T cells could slow ALS progression. This research aims to modulate immune responses, offering hope for new ALS therapies. Learn more about the immune system's role in #ALS: bit.ly/3AFEcVB #ALSResearch

Euan gave me unwavering support during my PhD (and always asked the most challenging questions!). He leaves behind a true legacy - @EuansCentre @EuansGuide - ever grateful

MND Scotland are investing £10,000, and working with the Neurosciences Foundation, to support an innovative study into the potential use of MRI scanning for diagnosis and monitoring of motor neuron disease (MND) 💙Read the full story here: mndscotland.org.uk/news/mnd-scotl…

Our new paper from @GregoryLab7 is out! We performed pathological profiling of post-mortem tissue in a case series of 3 ALS patients with NEK1 variants. Our findings suggest that pathological mechanisms may be different between variants, ie, NEK1 absence vs aggregation #ALS #NEK1

Important research from @olivia_rifai about NEK1 - a relatively newly described ALS gene and one that is found in the Scottish population. Taking us further towards understanding the unique pathological hallmarks and unifying features of genetic ALS @GregoryLab7

This was a collaborative effort @olivia_rifai @FergalWaldron @GregoryLab7 @Yelleighton funded by @TargetALS_fdn @NIHRresearch @wellcometrust

We see co-aggregation of NEK1 and TDP-43, and mutually exclusive aggregation events. To do this we developed a dual-chromogenic staining protocol to stain a protein (NEK1 in this case) in the same section as our TDP-43 RNA aptamer. SOP available online: dx.doi.org/10.17504/proto…

🚨New publication🚨Clinicopathological analysis of NEK1 variants in amyotrophic lateral sclerosis. We show that NEK1 loss of function can either be mediated through loss of NEK1 translation or through aggregation of NEK1 protein (p.Arg261His mutation). doi.org/10.1111/bpa.13…

We've published new research on the genetic landscape of #MND in Scotland. Genetic testing has implications for intervention choice & trial participation. This research is made possible by everyone who contributes to our national register, CARE-MND. annerowlingclinic.org/about/news/gen…

To mark #GlobalMNDAwarenessDay, this week we launched our network of events to bring together researchers & people affected by MND. LEARN aims to connect MND researchers & people with MND to help drive research. mndscotland.org.uk/news/mnd-scotl…

Marking 10 years since the viral phenomenon that was the Ice Bucket Challenge. #GlobalMNDAwarenessDay is an opportunity to highlight that, 10 years on, people with MND still need support. We need to fund research to find effective treatments & a cure. mndscotland.org.uk/news/global-mn…

With more research into specific sub-types of MND, and looking towards hopeful future developments in MND treatments for genetic sub-types, understanding the genetic make up of those with MND in Scotland will be important in taking MND research and care forward.

@jennagregory488 @DrArpan100 With thanks to colleagues @suvankarpal @JNewton_MND and all other co-authors!

- Top genes in Scotland are currently: C9orf72, SOD1 (mainly the I114T variant), FUS, NEK1 - NEK1 loss of function variants merit further study @jennagregory488 @DrArpan100 - 3.5% have a SOD1 mutation - a small but significant proportion for potential gene treatment

I am pleased to share our latest publication detailing the Genotypes and Phenotypes of people with MND in Scotland. Special thanks to the individuals with MND and families who contributed as well as supporters at @MNDScotland, @mndassoc and @CSO_Scotland link.springer.com/article/10.100…

@jennagregory488 @DrArpan100 - C9orf72 and SOD1 can coexist - important to test for both - Early identification of C9orf72 can preempt cognitive change (and vice versa) which helps to anticipate care