iiinova — where your digital self keeps evolving

Reposted by Jepson Lab, UCL

Department of Neuromuscular Diseases, UCL QSION @uclqsneuromuscular.bsky.social · 30/01/2026

Congratulations to Natalia Dominik on receiving a Guarantors of Brain non-clinical postdoctoral fellowship for 3 years from October 2026.

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Reposted by Jepson Lab, UCL

Abigail Wilson, PhD @abigaildwilson.bsky.social · 11/12/2025

Was delighted to host Tzu-Ting (Tammy) Huang to give a talk and chat to everyone in the @jepsonlabucl.bsky.social at @ucl.ac.uk Institute of Neurology, she gave a fantastic talk for the UCL fly community & was great to reconnect after meeting at CSHL Drosophila Neurobiology programme in 2023! 🪰

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 20/11/2025

Fly studies were again led by the amazing Dr. Natalia Dominik (check out her recent JCI paper too!), with help from Dr. Simon Lowe in the lab. 🪰 Thanks once more to @ukri.org (MRC) for funding this fly work!

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 20/11/2025

This work was led by my fantastic colleague Prof. Andrea Cortese @uclqsion.bsky.social, alongside ourselves and Emmanuele Crespan's group at the Institute of Molecular Genetics IGM-CNR.

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 20/11/2025

One more pre-print! www.biorxiv.org/content/10.1... This is an amazing collaboration investigating the mechanisms underlying an intriguing and mysterious neurodegenerative disorder: cerebellar ataxia and sensory neuropathy caused by AAGGG repeat expansions in the RFC1 locus.

biorxiv.org

CANVAS causing AAGGG repeat expansions cause tissue-specific reduction in RFC1 expression and increase sensitivity to DNA damage

Biallelic AAGGG expansions in Replication Factor Complex Subunit 1 ( RFC1) are associated with cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and are increasingly recognised as ...

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 18/11/2025

This work was led by Dr. Natalia Dominik (who also led the Drosophila studies 🪰) and Dr. Stephanie Efthymiou, in collaboration with the Houlden, Lamarche-Vane, and Reilly groups @uclqsion.bsky.social and at McGill University, and leading clinicians throughout the world. Happy to see this published!

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 18/11/2025

Also, quick additional post to highlight this fantastic work on novel genetic mutations in the ARHGAP19 gene that cause Charcot-Marie-Tooth (CMT) Disease, now published in @jci.org . www.jci.org/articles/vie...

jci.org

JCI - Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 18/11/2025

We are also very grateful to @ukri.org (MRC and BBSRC) for funding this research! 🙏

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 18/11/2025

We hope that researchers, members of the public, and policymakers, interested in 1. how environmental contanimants may influence neurological disease, and 2. the interaction between memory and sleep, find these works of interest.

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 18/11/2025

We suggest that this is consistent with a well-known postulated function of sleep: the synaptic homeostasis hypothesis. Overall, our data reveal an additional mode of memory - in addition to episodic, procedural, and aversive memory - that can be influenced by sleep.

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 18/11/2025

Simon's work extends the range of sensory modalities in which habituation can be investigated. As importantly, we also found an unexpected role of night time sleep in modulating habituation. In essence, the less night sleep flies have, the slower they habituate to mechanical stimuli 🤔.

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 18/11/2025

In pre-print no. 2, Simon has devised a novel protocol to measure habituation to mechanosensory stimuli in Drosophila. www.biorxiv.org/content/10.1... Habituation is an ancient form of non-associative memory that has been widely studied in flies, but primarily to visual and olfactory stimuli.

biorxiv.org

Nighttime sleep modulates mechanosensory habituation in Drosophila

Organisms must focus their attention on ethologically relevant stimuli to maximise survival and reproduction. This is achieved, in part, through a process termed habituation, in which responses to rep...

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 18/11/2025

MNPs are increasingly bioaccumulating in human tissues, particularly the brain. Simon's work suggests a concerning possibility: that humans harbouring mutations causing neurological diseases associated with mitochondrial dysfunction (such as PD) may be particularly vulnerable to rising MNP levels .

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 18/11/2025

Simon's work provides proof-of-principle using a Drosophila model that ingestion of micro/nano-plastics (MNPs) - ubiquitous contaminants that disrupt mitochondrial function and cause oxidative stress - can enhance the pathogenic effects of genetic mutations causing Parkinson's Disease (PD).

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 18/11/2025

This project was entirely devised and undertaken by Simon as a 'side project', which he introduced to us in almost complete form during a very memorable lab meeting 😲.

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Reposted by Jepson Lab, UCL

Marc Dionne @marcsdionne.bsky.social · 03/06/2025

My lab studies bacterial infections. We spend a lot of time looking at (or for) species-specific genetic and genomic databases for hosts and microbes. FlyBase is the best of all—there is literally no comparison. Its existence is under threat. Please donate. www.philanthropy.cam.ac.uk/give-to-camb...

philanthropy.cam.ac.uk

Drosophila Genetic Database

The Drosophila Genetic Database, FlyBase, is on the brink of collapse due to the sudden termination of the FlyBase NIH grant, which includes salaries for 5 literature curators based at the University ...

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Reposted by Jepson Lab, UCL

Abigail Wilson, PhD @abigaildwilson.bsky.social · 16/05/2025

The Inaugural UCL Dystonia Day Symposium was held this week! An amazing line up of speakers, posters and panel discussion. It was fantastic (and important) to be joined by @dystoniauk.bsky.social. A big shout out to @jepsonlabucl.bsky.social for organising. We hope to make this a regular occurrence!

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Reposted by Jepson Lab, UCL

British Neuroscience Association @britishneuro.bsky.social · 29/04/2025

🎉We are delighted to congratulate the winner of the 2025 BNA Credibility in Neuroscience Prize: Rob Wykes, @uniofmanchester.bsky.social @epilepsyinst.bsky.social www.bna.org.uk/mediacentre/...

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 28/04/2025

Deadline for the UCL Dystonia Day Symposium is coming up this week! May 1st, 4pm! If you would like to join us to hear about cutting-edge research into dystonia patho-mechanisms, please visit the link below: www.ucl.ac.uk/ion/events/2...

ucl.ac.uk

Inaugural UCL Dystonia Day symposium

The UCL Dystonia Day Symposium seeks to bring basic and clinical researchers together to address this critical question. The Symposium will showcase cutting-edge research from early career researchers...

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 10/04/2025

Very excited by the spectacular range of talks and posters we have planned for the UCL Dystonia Day Symposium on May 14th! Anyone in the neighbourhood who is interested in dystonia, please join us by registering through the link below: www.ucl.ac.uk/ion/events/2...

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Reposted by Jepson Lab, UCL

Cahir O'Kane @cahirokane.bsky.social · 31/03/2025

Worth following @fly-broadcast.bsky.social for new fly papers on PubMed. They deserve a lot more than 50 followers! @bdsc.bsky.social @flybase.bsky.social @fly-eds.bsky.social @dgrc.bsky.social

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 03/03/2025

We are particularly interested in showcasing the work of early career researchers performing fundamental investigations into dystonia mechanisms and treatments. Check out the website above to register, and please send potential talk/poster abstracts to the organiser (😉).

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 03/03/2025

Watch out for Abi's work soon, with more exciting investigations of #dystonia to come from her recent @wellcometrust.bsky.social Early Career Fellowship.

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 03/03/2025

Abi's talk highlighted work from the lab that she has led - as part of a great collaboration with the Brownstone and Kullmann groups at UCL - in identifying a new potential drug treatment for dystonia/dyskinesia using a Drosophila model 🪰.

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 03/03/2025

Really proud that @abigaildwilson.bsky.social was awarded the best talk prize at the Crick Rare Disease Conference today 👍.

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 12/02/2025

Please register on the website above and send abstracts for potential talks/posters to the contact lead. For the Symposium's talks, we are focusing on giving early career researchers an exciting opportunity to present their work. We look forward to seeing you there!

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 12/02/2025

We will also have an introductory talk from Victoria Wareham (Dystonia UK), a Panel discussion with established leaders on how to advance the field, and an exciting plenary talk from Prof. Manju Kurian (UCL Great Ormond Street Institute of Child Health).

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 12/02/2025

FYI: we will be hosting the inaugural UCL Dystonia Day, on May 14th! This Symposium will showcase the latest research into defining dystonia patho-mechanisms and identifying novel treatments for this debilitating disease. www.ucl.ac.uk/ion/events/2...

ucl.ac.uk

Inaugural UCL Dystonia Day symposium

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Reposted by Jepson Lab, UCL

Reza Maroofian @reza-maroofian.bsky.social · 06/01/2025

We report 35 patients with biallelic RBL2 loss-of-function variants presenting with developmental delay/intellectual disability, hypotonia, seizures, microcephaly & brain abnormalities. Drosophila models recapitulate key features & suggest RBL2 re-expression may help rescue neurological symptoms.

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 18/12/2024

What's a cell-cycle regulator doing in post-mitotic neurons?? Stay tuned - @gabrielaughey.bsky.social has exciting new data on this that we hope to present fully soon 🙂.

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 18/12/2024

Intriguingly, we identify a novel role for Rbf in mature neurons (after cell cycle exit), and show that Rbf knockdown in adult neurons is sufficient to disrupt movement in flies. Unexpected!

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 18/12/2024

@gabrielaughey.bsky.social from @jepsonlabucl.bsky.social, and Elisa Cali provided supporting Drosophila studies, showing that mutants in the fly orthologue Rbf present with strikingly similar phenotypes to RBL2 patients, including developmental delay and movement/sleep defects.

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 18/12/2024

RBL2/Rbf inhibit G>S transition during the cell cycle. Prior work has identified small numbers of patients with RBL2 mutations, leading to a neurodevelopmental disorder. This paper presents the largest cohort of RBL2 patients to date, revealing novel mutations and expanding the clinical spectrum.

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 18/12/2024

Very happy to see our work with Henry Houlden's group and others on RBL2/Rbf mutations linked to a multifaceted neurodevelopmental disorder, published in Brain today. This work was led by super post-doc @gabrielaughey.bsky.social, Elisa Cali, and Reza Maroofian. academic.oup.com/brain/advanc...

academic.oup.com

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

RBL2 dysfunction, which disrupts cell-cycle gene expression, has been linked to a severe neurodevelopmental disorder. Aughey et al. characterize a cohort o

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Reposted by Jepson Lab, UCL

Moita Lab @moitalab.bsky.social · 02/12/2024

Thrilled to present our latest BioRXiv on brain/body interactions during defensive freezing behaviour! (www.biorxiv.org/content/10.1...). You might think that a frozen animal has, well, frozen muscle activity, right? Wrong! Underneath the still surface of a fly, something in the legs is beating… 🧵

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Jepson Lab, UCL @jepsonlabucl.bsky.social · 29/11/2024

First post on BlueSky! Stellar post-doc from the lab @gabrielaughey.bsky.social will be giving a Development Node webinar next week 🙂, describing his work using Drosophila to probe cell-cycle dysregulation in neurodevelopmental disease. Please tune in! thenode.biologists.com/development-...

thenode.biologists.com

Development presents... December webinar on gene regulation - the Node

Hear from two early-career researchers studying gene regulation.

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