Vincent

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...

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...

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…

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.

Next up prof. Vincent Dion from the @ukdri.ac.uk is talking science fact, not science fiction, and telling us about his groups approach to finding a treatment for Huntingtons. @alzheimersresearchuk.org

Our second speaker of the day, Dr Lelos talking to us about cell therapy and how this might be used to treat Huntingtons. @alzheimersresearchuk.org

Image shows a researcher in a stage explaining Huntington’s disease. He is talking about the CAG expansion found in this disease.

ARUK public engagement at the @cardiffcity.bsky.social stadium. Dr Massey kicking it off by talking to us about Huntington’s Disease, what it is and how we might be cure it. @alzheimersresearchuk.org

Yes, that’s another good reason: it is expansive to move abroad!

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...

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...

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...

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

If you are from abroad and/or you have already been thinking of leaving, this is a good push.

But for the vast majority of people, going abroad is not a solution.

3) There are not enough science jobs for hundreds of Americans to suddenly go abroad.

4) This is a grass is greener on the other side idea. There are problems with the systems elsewhere also.

2) Getting funding in another country’s funding system is not trivial. NIH-style grant is not the same as MRC or CIHR grants. The cultures, reviewers, and expected preliminary data are all different. It’s a new skill to learn.

1) It is incredibly hard to move countries, you lose your social circle and you uproot your kids/partner who also have local lives/jobs/studies.

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...

Huntington's Disease: Professor Vincent Dion on The Promise of a Cure In Two Minds · Episode

I did this podcast about where we are with our gene editing approach for expanded repeat disorders. I think you’ll enjoy it. I did anyway!

open.spotify.com/episode/5aPX...

I need your help in spreading the word. We need a new director. The link is here:

www.ukdri.ac.uk/vacancies/ce...

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.

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...

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...

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

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...

Insights into the causes and consequences of DNA repeat expansions from 700,000 biobank participants Expansions and contractions of tandem DNA repeats are a source of genetic variation in human populations and in human tissues: some expanded repeats cause inherited disorders, and some are also somati...

🤯

www.biorxiv.org/content/10.1...

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...

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,...

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

‘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.

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/...

Recurrent DNA nicks drive massive expansions of (GAA)n repeats | PNAS Over 50 hereditary degenerative disorders are caused by expansions of short tandem DNA repeats (STRs). (GAA)n repeat expansions are responsible for...

I’m a fan! 😍
Well done @semirkin.bsky.social and team!

Looks like where you nick DNA matters a lot!

www.pnas.org/doi/abs/10.1...

Suppression of Huntington's Disease Somatic Instability by Transcriptional Repression and Direct CAG Repeat Binding - PubMed Huntington's disease (HD) arises from a CAG expansion in the <i>huntingtin</i> ( <i>HTT</i> ) gene beyond a critical threshold. A major thrust of current HD therapeutic development is lowering levels ...

This is a good read!

pubmed.ncbi.nlm.nih.gov/39574582/

a cartoon character with the words the truth will be revealed on the bottom Alt: a cartoon character with the words the truth will be revealed on the bottom

Major announcement on support for a new social media source December 3rd