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Vincent

@vdion.bsky.social

Prof of DNA repair and neurodegeneration at the UK DRI at Cardiff university. Huntington’s disease Myotonic dystrophy and others

16 Posts214 Follower219 Folgt
Vincent@vdion.bsky.social · 9mo ago

Manuscript update alert! Correcting expanded repeats with the #CRISPR Cas9 nickase. In the brain! Of a #Huntington’s disease model! With improvements to molecular phenotypes! And rescued locomotion! A massive team effort. www.biorxiv.org/content/10.1...

Cas9 Nickase-Mediated Contraction of CAG/CTG Repeats in Vivo is Accompanied by Improvements in Huntington's Disease Pathology

Expanded CAG/CTG repeats cause over 15 different diseases that all remain without a disease-modifying treatment. Because repeat length accounts for most of the variation in disease severity, contracti...

biorxiv.org

Vincent@vdion.bsky.social · 11mo ago

Ever wondered why there are interruptions in expanded repeats? Here are our thoughts: www.sciencedirect.com/science/arti... (We think the answer is double-strand break repair) PS: I’ve not been on here for a bit, but I needed to do some self promotion.

Interruptions impact clinical features of repeat expansion diseases, but how are they gained and lost?

Interruptions within expanded tandem repeats reduce somatic expansion and alter the severity of the resulting diseases. Consequently, much has been do…

sciencedirect.com

Vincent@vdion.bsky.social · last yr.

We are lucky to be among the funded projects (We’re in good company!) We’re de-risking our gene editing approach for expanded repeat disorders (e.g. Huntington’s disease, myotonic dystrophy…). One step closer to the clinic! www.ukdri.ac.uk/news-and-eve...

Gene therapy, brain stimulation and drug targets: latest round of Translation Awards announced

We are pleased to announce the eight awardees in the fifth round of the UK DRI Translation Award programme – designed to unlock impact and drive translation within the Institute, kick starting the ear...

ukdri.ac.uk

Marco Brancaccio@mbra3.bsky.social · last yr.

Postdoc position still available in my group at Imperial. We are looking for talented and enthusiastic candidates with significant experience with live imaging/ electrophysiology. Deadline 3/4/25 www.imperial.ac.uk/jobs/search-... @bioclocksuk.bsky.social @imperialbrains.bsky.social @ukdri.ac.uk

Description

Please note that job descriptions are not exhaustive, and you may be asked to take on additional duties that align with the key responsibilities ment...

imperial.ac.uk

Vincent@vdion.bsky.social · last yr.

I’ll say it again because it is important. American scientists will not en masse leave the US. This is for several reasons. Here are a few. For those already on the fence, we are recruiting a new centre director. www.ukdri.ac.uk/vacancies/ce...

Centre Director, UK DRI at Cardiff

The UK Dementia Research Institute (UK DRI), principally funded by the Medical Research Council (MRC), and Cardiff University are seeking to appoint an outstanding established academic to a new Chair ...

ukdri.ac.uk

Harmit Singh Malik@harmitmalik.bsky.social · 2y ago

If you have been affected by the fires in LA, or are concerned about your ability to keep precious Drosophila strains going during the latest funding crisis, we will host your strains as a backup. Please email me. Please amplify. If you are also able to host fly strains, add your name as well.

Vincent@vdion.bsky.social · 2y ago

I don’t think many of my American scientist friends will leave the US despite the recent political changes affecting the NIH. But if they were interested, they should apply to become centre director here in Cardiff! www.ukdri.ac.uk/vacancies/ce...

Centre Director, UK DRI at Cardiff

The UK Dementia Research Institute (UK DRI), principally funded by the Medical Research Council (MRC), and Cardiff University are seeking to appoint an outstanding established academic to a new Chair ...

ukdri.ac.uk

Vincent@vdion.bsky.social · 2y ago

We are looking for a new director of the UK Dementia Research Institute at Cardiff University! We are doing work on #Huntingtons #Alzheimers #PD. This is a unique opportunity to be my boss! To apply: krb-sjobs.brassring.com/TGnewUI/Sear...

Centre Director, MRC UK Dementia Research Institut - Cardiff University - Job Details

Job Details: Centre Director, MRC UK Dementia Research Institute at CardiffChair in Neuroscience, Clinical or Non-ClinicalS

krb-sjobs.brassring.com

Dementia Researcher@dementiaresearcher.bsky.social · 2y ago

Dr Gabriel Balmus at the UK Dementia Research Institute @ukdri.bsky.social, University of Cambridge is seekign a Research Assistant to work on DNA Damage and Huntington's Disease. Closing date: 19th January www.dementiaresearcher.nihr.ac.uk/job/research...

Research Assistant: DNA Damage and Huntington’s Disease

Dr Gabriel Balmus at the UK Dementia Research Institute, University of Cambridge is seekign a Research Assistant to work on DNA Damage and Huntington's Disease

dementiaresearcher.nihr.ac.uk

@semirkin.bsky.social · 2y ago

Another week, another great paper! Kudos to the amazing grad student, Chiara Masnovo who single-handedly initiated and led the project, and arranged a terrific collaboration with the Aharoni lab from Ben-Gurion University, and to the great members of the two labs. www.nature.com/articles/s41...?

Stabilization of expandable DNA repeats by the replication factor Mcm10 promotes cell viability - Nature Communications

DNA repeats can lengthen or shorten during their replication, which may lead to a human disease. Here, the authors discovered that an essential replication protein, Mcm10, counteracts instability of G...

nature.com

Chiara Masnovo@chiaramasnovophd.bsky.social · 2y ago

Mcm10 — an important replication and elongation factor, counteracts repeat instability and ensures survival of yeast cells containing large homopurine homopyrimidine repeats, such as GAA associated with Friedreich’s Ataxia and AAGGG associated with CANVAS. 🧬 @natureportfolio.bsky.social

Stabilization of expandable DNA repeats by the replication factor Mcm10 promotes cell viability

Nature Communications - DNA repeats can lengthen or shorten during their replication, which may lead to a human disease. Here, the authors discovered that an essential replication protein, Mcm10,...

rdcu.be

Department of Brain Sciences@imperialbrains.bsky.social · 2y ago

In a study of brain cells from mice and humans, researchers have uncovered a 'chemical metronome' which tells us when its time to sleep.😴 The scientists say this could have implications for treating jetlag and sleep disorders.👇 www.imperial.ac.uk/news/258953/...

‘Chemical metronome’ helps the brain to keep time | Imperial News | Imperial College London

Imperial researchers uncover a ‘chemical metronome’ in the brain, which helps to synchronise the master clock telling us when it’s time to sleep.

imperial.ac.uk