Jepson Lab, UCL
@jepsonlabucl.bsky.social
Drosophila laboratory at the UCL Queen Square Institute of Neurology, UK. Our work focuses on identifying patho-mechanisms and treatments for involuntary movement disorders (such as dystonia and dyskinesia) and neurodevelopmental disorders.
Reposted by Jepson Lab, UCL
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.
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.
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 ...
www.biorxiv.org
November 20, 2025 at 3:06 PM
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.
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.
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...
www.jci.org/articles/vie...
JCI -
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
www.jci.org
November 18, 2025 at 8:23 PM
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...
www.jci.org/articles/vie...
Pre-print alert! Very happy to highlight two fantastic pre-prints on bioRxiv led by stellar post-doc Simon Lowe @satlowe.bsky.social in the lab.
Pre-print no. 1 is a paper I am particularly proud of:
www.biorxiv.org/content/10.1...
Pre-print no. 1 is a paper I am particularly proud of:
www.biorxiv.org/content/10.1...
Micro-/nano-plastics accentuate Parkinson's Disease-relevant phenotypes in a Drosophila model
Micro- and nano-plastic (MNP) particles are a ubiquitous environmental contaminant that are increasingly bioaccumulating in human tissues, particularly the brain. MNPs induce mitochondrial defects, ox...
www.biorxiv.org
November 18, 2025 at 8:14 PM
Pre-print alert! Very happy to highlight two fantastic pre-prints on bioRxiv led by stellar post-doc Simon Lowe @satlowe.bsky.social in the lab.
Pre-print no. 1 is a paper I am particularly proud of:
www.biorxiv.org/content/10.1...
Pre-print no. 1 is a paper I am particularly proud of:
www.biorxiv.org/content/10.1...
Reposted by Jepson Lab, UCL
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...
www.philanthropy.cam.ac.uk/give-to-camb...
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 ...
www.philanthropy.cam.ac.uk
June 3, 2025 at 5:00 PM
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...
www.philanthropy.cam.ac.uk/give-to-camb...
Reposted by Jepson Lab, UCL
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!
May 16, 2025 at 2:11 PM
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!
Today is the last chance to register for this exciting Symposium on dystonia mechanisms at UCL! Get your tickets via the link below 👍.
www.ucl.ac.uk/ion/events/2...
www.ucl.ac.uk/ion/events/2...
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...
www.ucl.ac.uk
May 1, 2025 at 9:28 AM
Today is the last chance to register for this exciting Symposium on dystonia mechanisms at UCL! Get your tickets via the link below 👍.
www.ucl.ac.uk/ion/events/2...
www.ucl.ac.uk/ion/events/2...
Reposted by Jepson Lab, UCL
🎉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/...
www.bna.org.uk/mediacentre/...
April 29, 2025 at 10:11 AM
🎉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/...
www.bna.org.uk/mediacentre/...
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...
www.ucl.ac.uk/ion/events/2...
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...
www.ucl.ac.uk
April 28, 2025 at 7:48 AM
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...
www.ucl.ac.uk/ion/events/2...
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...
www.ucl.ac.uk/ion/events/2...
April 10, 2025 at 8:26 AM
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...
www.ucl.ac.uk/ion/events/2...
Reposted by Jepson Lab, UCL
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
@bdsc.bsky.social @flybase.bsky.social @fly-eds.bsky.social @dgrc.bsky.social
PDZD8 promotes autophagy at ER-lysosome membrane contact sites to regulate activity-dependent synaptic growth
#Drosophila
#Drosophila
PDZD8 promotes autophagy at ER-lysosome membrane contact sites to regulate activity-dependent synaptic growth
#Drosophila
PubMed link
pubmed.ncbi.nlm.nih.gov
March 31, 2025 at 4:38 PM
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
@bdsc.bsky.social @flybase.bsky.social @fly-eds.bsky.social @dgrc.bsky.social
Reposted by Jepson Lab, UCL
Last few days to apply!
Post-doctoral position 3 years Wellcome funded in UK
To investigate how experience shapes the brain
Drosophila neurogenetics, imaging, behaviour
Deadline 19/3/25
Pls RP.
#drosophila
#postdoc
#jobs
Apply here
edzz.fa.em3.oraclecloud.com/hcmUI/Candid...
Post-doctoral position 3 years Wellcome funded in UK
To investigate how experience shapes the brain
Drosophila neurogenetics, imaging, behaviour
Deadline 19/3/25
Pls RP.
#drosophila
#postdoc
#jobs
Apply here
edzz.fa.em3.oraclecloud.com/hcmUI/Candid...
Research Fellow in Neurogenetics to investigate how experience shapes the brain - School of Biosciences - 98709 - Grade 7
A Research Fellow with experience in behavioural neurogenetics of Drosophila is sought. The aim of the project is to investigate how experience and behaviour shape the brain throughout life, the impac...
edzz.fa.em3.oraclecloud.com
March 15, 2025 at 8:58 AM
Last few days to apply!
Post-doctoral position 3 years Wellcome funded in UK
To investigate how experience shapes the brain
Drosophila neurogenetics, imaging, behaviour
Deadline 19/3/25
Pls RP.
#drosophila
#postdoc
#jobs
Apply here
edzz.fa.em3.oraclecloud.com/hcmUI/Candid...
Post-doctoral position 3 years Wellcome funded in UK
To investigate how experience shapes the brain
Drosophila neurogenetics, imaging, behaviour
Deadline 19/3/25
Pls RP.
#drosophila
#postdoc
#jobs
Apply here
edzz.fa.em3.oraclecloud.com/hcmUI/Candid...
Reposted by Jepson Lab, UCL
Multiple group leader positions in developmental biology in @ibdm.bsky.social Marseille, at an institute that produces some great work.
We Are Recruiting Group Leaders - IBDM | Institut de Biologie du Développement de Marseille
The Institut de Biologie du Développement de Marseille (IBDM) is inviting applications for group leader positions. We are seeking innovative researchers who aim to address fundamental questions in bio...
staging.ibdm.univ-amu.fr
March 4, 2025 at 10:15 AM
Multiple group leader positions in developmental biology in @ibdm.bsky.social Marseille, at an institute that produces some great work.
Just under two weeks to submit talk/poster abstracts for the inaugural UCL Dystonia Day Symposium!
www.ucl.ac.uk/ion/events/2....
www.ucl.ac.uk/ion/events/2....
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...
www.ucl.ac.uk
March 3, 2025 at 9:55 PM
Just under two weeks to submit talk/poster abstracts for the inaugural UCL Dystonia Day Symposium!
www.ucl.ac.uk/ion/events/2....
www.ucl.ac.uk/ion/events/2....
Really proud that @abigaildwilson.bsky.social was awarded the best talk prize at the Crick Rare Disease Conference today 👍.
March 3, 2025 at 9:47 PM
Really proud that @abigaildwilson.bsky.social was awarded the best talk prize at the Crick Rare Disease Conference today 👍.
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...
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...
Inaugural UCL Dystonia Day symposium
www.ucl.ac.uk
February 12, 2025 at 1:54 PM
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...
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...
Reposted by Jepson Lab, UCL
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.
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/brain/advanc...
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
academic.oup.com
January 6, 2025 at 6:57 PM
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.
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/brain/advanc...
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
academic.oup.com
December 18, 2024 at 6:30 PM
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/brain/advanc...
Reposted by Jepson Lab, UCL
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… 🧵
December 2, 2024 at 9:57 AM
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… 🧵
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-...
Development presents... December webinar on gene regulation - the Node
Hear from two early-career researchers studying gene regulation.
thenode.biologists.com
November 29, 2024 at 1:34 PM
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-...