Axonal pathophysiology in ALS: investigating the role of FUS-ALS mutations in axonal damage and regrowth at University College London on FindAPhD.com PhD Project - Axonal pathophysiology in ALS: investigating the role of FUS-ALS mutations in axonal damage and regrowth at University College London, listed on FindAPhD.com

If you are looking for a PhD, are passionate about neurobiology and enjoy microscopy, come and join us for a PhD project on axonal pathophysiology in ALS!

www.findaphd.com/phds/project...
Applications close on Friday 4th July 2025

@mndassoc.bsky.social
@uclqsion.bsky.social

Research Fellow: Immune system and Cognitive function Join the UKDRI at UCL in the Salih Lab to explore how glial-specific longevity genes affect ageing & Alzheimer’s using iPSC models, genomics & molecular biology

Join the UKDRI at UCL in the Salih Lab to explore how glial-specific longevity genes affect ageing and Alzheimer’s, using iPSC models, genomics, and molecular biology @ukdri.ac.uk @dervissalih1.bsky.social Closing date: 26th June

www.dementiaresearcher.nihr.ac.uk/job/research...

New screening platform provides powerful tool to study ALS and FTD Scientists led by Prof Adrian Isaacs (UK DRI at UCL) have developed an innovative screening platform that could accelerate the search for treatments for the most common genetic cause of frontotemporal...

Check out a write up here: www.ukdri.ac.uk/news-and-eve...

A multimodal screening platform for endogenous dipeptide repeat proteins in C9orf72 patient iPSC neurons Repeat expansions in C9orf72 are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. Repeat-associated non-AUG (RAN) t…

We tagged C9orf72 repeat dipeptides in patient iPSC-neurons and did genetic and small molecule screens with interesting results! Huge effort from many lab members @ukdri.ac.uk‬ @uclqsion.bsky.social and @alzheimersresearchuk.org‬ Drug Discovery Institute at UCL www.sciencedirect.com/science/arti...

Genetic Causes of ALS/FTD with Prof. Isaacs In this episode of our Neuroscience Research series, hosts Filippo Dall'Armellina and Michael Cearns welcome Professor Adrian Isaacs (UCL), who investigates the molecular and cellular mechanisms under

I recenty did a podcast about our work in the lab @ukdri.ac.uk @uclqsion.bsky.social to understand the mechanisms that cause FTD/ALS check it out here: SoundCloud on.soundcloud.com/xs6j9EcMbTRW...
- Apple Podcasts podcasts.apple.com/it/podcast/n...
- Spotify open.spotify.com/episode/7cnY...

We are still investigating the mechanisms of protection as it may be more beneficial to mimic the effects of PUFAs in the brain using other means

We next need to determine whether a specific PUFA (there are several) is able to provide benefit on its own and then take forward to a clinical trial

Dietary ω-3 PUFA Intake and Risk for ALS Fitzgerald and colleagues examined the association between ω-6 and ω-3 polyunsaturated fatty acid (PUFA) consumption and the risk for amyotrophic lateral sclerosis (ALS). Swash provided a related Art...

Our data fits well with existing epidemiological studies from Alberto Ascherio @hsph.harvard.edu showing increased PUFA levels reduces risk for ALS and prolongs survival after onset e.g jamanetwork.com/journals/jam...

This suggests that delivery of PUFAs to neurons in the brain is needed for them to exert their protective effect

So we next expressed a fatty acid desaturase enzyme, which generate PUFAs, only in the brain cells of our C9orf72 ALS flies and this time the improvement was much more dramatic. This approach also increased the survival of human C9orf72 patient neurons

We next wanted to test if restoring PUFAs would be beneficial. We found that increasing PUFAs through the diet only modestly extended survival of our C9orf72 ALS fly model

We initially found a deficit in PUFAs in C9orf72 patient neurons and a fruit fly model by measuring ~1400 different lipids with Martin Giera and @rikvanderkant.bsky.social

Neuronal polyunsaturated fatty acids are protective in ALS/FTD Nature Neuroscience - Lipidomics revealed that neurons of patients with ALS/FTD have reduced levels of polyunsaturated fatty acid (PUFA)-containing phospholipids. Increasing neuronal PUFA levels...

Really excited this is out! We found polyunsaturated fatty acids (PUFAs) were beneficial in models of C9orf72 FTD/ALS and the greatest benefit occurred when increasing levels specifically within neurons @ukdri.ac.uk @uclqsion.bsky.social @ucl.ac.uk @cziscience.bsky.social
rdcu.be/ebbZf

Check out our new review of C9orf72 ALS in @thelancetneuro.bsky.social with Sarah Mizielinska, Rosa Rademakers and others! Was fun to co-write but tough to collate such incredible progress into a one article: authors.elsevier.com/c/1ke765FFzL...

Generation of C9orf72 repeat knock-in iPSC lines for modelling ALS and FTD Induced pluripotent stem cell (iPSC) models are powerful tools for neurodegenerative disease modelling, as they allow mechanistic studies in a human genetic environment and they can be differentiated ...

A first description of the C9 repeat iNDI lines is now on bioRxiv, a collaboration from genome engineering through cell biology to facilitate ALS/FTD research @michael-e-ward.bsky.social @jacksonlab.bsky.social @cziscience.bsky.social
www.biorxiv.org/content/10.1...

Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivo Nature Communications - CRISPR-CasRx effectively reduces ALS- and FTD-causing C9orf72 sense and antisense repeat derived RNAs and proteins in cell lines, patient iPSC-neurons and two independent...

First post here! Our latest paper showing CRISPR-CasRx can target both sense and antisense C9orf72 repeats is just out! rdcu.be/d5ADQ co-led by @alexcammack.bsky.social @ukdri.bsky.social @uclqsion.bsky.social