📣 New preprint: “Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs” www.medrxiv.org/content/10.6... snRNAs are increasingly recognised as major players in rare disorders (RNUopathies), yet interpreting variants in these genes is a major challenge. 🧵 1/7

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs

Background: Small nuclear RNAs (snRNAs) are RNA components of the major and minor spliceosomes that play a core role in splice-site recognition and control of the splicing process. Variants in genes t...

medrxiv.org

A truly collaborative effort w/ amazing folks: Sid Banka, Maya Chopra, Alison Coffey, @christeldepienne.bsky.social, Wojciech Galej, Sylvie Mazoyer, Caroline Nava @anneotation.bsky.social, Jillian O'Toole, Robin Paluch, Pia Riestra, @carlorivolta.bsky.social, Stephan Sanders Thank you all! 7/7

Such a fantastic day in Paris with the neuroscience community. 🧠 Incredible how many outstanding talks could fit into just one day! Thank you so much for the invitation, Fiona Francis, Juliette Godin, @sarabiz86.bsky.social, and Julien Courchet!

Baptiste Libé-Philippot@blibep.bsky.social · 2mo ago

🧠 Nice Day at the Neural Network Club in Paris, @ijmonod.bsky.social 🧪 Super keynote speakers: @christeldepienne.bsky.social @morganethion.bsky.social Olivier Raineteau. 🧬 I showed our works "Hominid-specific LRRC37 receptors: a versatile toolbox in human neurons and neural circuits".

📢 paper alert 📢 #epilepsy associaties RNU2-2 description by @christeldepienne.bsky.social @nickywhiffin.bsky.social -> recessive cases often include one de novo and one inherited variant -> complex architecture of non-coding RNU genes, many novel questions for the field #genetics #raredisease

European Society of Human Genetics@eshg.bsky.social · 4mo ago

🧬Three papers newly published in Nature Genetics spotlight RNU2-2 as a major cause of recessive developmental and epileptic encephalopathies. Congratulations to all three teams! 👉 www.nature.com/articles/s41... 👉 www.nature.com/articles/s41... 👉 www.nature.com/articles/s41...

🧬Three papers newly published in Nature Genetics spotlight RNU2-2 as a major cause of recessive developmental and epileptic encephalopathies. Congratulations to all three teams! 👉 www.nature.com/articles/s41... 👉 www.nature.com/articles/s41... 👉 www.nature.com/articles/s41...

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies - Nature Genetics

Analyses of snRNA genes in a French cohort of people with rare disorders, with validation through international collaboration, identify monoallelic and biallelic variants in RNU2-2 as frequent causes…

nature.com

I am delighted to finally share our new preprint exploring the role of RBMX and its retrocopies in neurodevelopment: 👉🏻Read the full preprint here: www.medrxiv.org/content/10.1... Below are the key findings 👇🏻

RBMX functional retrocopy safeguards brain development

Retrotransposition has generated thousands of intronless gene copies in mammalian genomes, yet their contribution to brain development and evolution remains largely unexplored. Here we uncover a criti...

medrxiv.org

While I was taking a holiday last week, 2 super exciting preprints dropped, adding to another posted 6 days prior. These papers describe a remarkable role for *recessive* variants in *RNU2-2* causing developmental and epileptic encephalopathy 🧵 by the amazing @christeldepienne.bsky.social 👇 1/3

Christel Depienne@christeldepienne.bsky.social · 11mo ago

After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE). 📄 www.medrxiv.org/content/10.1...

After our study on RNU4-2 and RNU5B-1 published in May (Nava et al, Nature Genetics 2025), I am excited to share our new preprint reporting dominant and recessive variants in RNU2-2 as a frequent cause of developmental and epileptic encephalopathy (DEE). 📄 www.medrxiv.org/content/10.1...

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies

Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, prev...

medrxiv.org

Today, the Scientific Programme Committee wrapped a fantastic and exciting programme for #eshg2026 conference! More information will available on our conference website soon. We look forward to welcoming you in Gothenburg!

It's time!!! An entire session of #eshg2025 on snRNA genes ❤️🤓

Next up: Amandine Santini International study led by @christeldepienne.bsky.social 145 ReNU syndrome individuals- T-loop variants associated with higher phenotypic severity and more 5'splice site disruption (19 cases). 35 cases/45 controls - identify a shared episignature. #eshg2025 1/2

Driven by the absolutely incredible families - it is truly amazing and humbling to watch!! Meet some of them here: www.renusyndrome.org/renu-hope-vi... ❤️🥹 @anneotation.bsky.social @dgmacarthur.bsky.social @christeldepienne.bsky.social #renuCrew

🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2: www.medrxiv.org/content/10.1... A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk 🧬🖥️🩺 🧵1/12

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted to affect tens of thous...

medrxiv.org

Happy to share our latest research article published open access in movement disorders movementdisorders.onlinelibrary.wiley.com/doi/epdf/10....

One more week until the abstract submission deadline for #eshg2025 #hybridconference! Do not forget to submit your abstract until Thursday, January 30, 2025, 23.59 h CET. All information can be found on our website: 2025.eshg.org/abstracts/ #genetics #genomes

I've updated the starter pack for rare genetic epilepsies 🧠🧬 It is a work in progress and I will continue to update the pack over the coming weeks 🤩 go.bsky.app/NXw4e8C

For all the Human Genetics folks: ReNU Syndrome has an OMIM page #RNU4-2 @nickywhiffin.bsky.social @christeldepienne.bsky.social www.omim.org/entry/620851

Fellow Genetics professors - rejoice! This is pedagogy heaven: the paradigmatic epiallele in calico cats … is built on a cis-regulatory deletion, not a coding mutation! We can teach it all off 1 paper! 1. Woo 2. Hoooo!!! H/t @lianafaye.bsky.social www.biorxiv.org/content/10.1...

Molecular and genetic characterization of sex-linked orange coat color in the domestic cat

The Sex-linked orange mutation in domestic cats causes variegated patches of reddish/yellow hair and is a defining signature of random X-inactivation in female tortoiseshell and calico cats. Unlike th...

biorxiv.org

I learned some stuff about Bluesky I did not know by reading this. Maybe worth passing it on to others so we can all start getting the full benefit of the 🦋.

Here’s some cool stuff you can do with Bluesky

It’s not just an Alf pics repository.

theverge.com

Vous aimez les podcasts, les scientifiques et la communication scientifique ? Voici ma petite contribution : 🇫🇷🥼Sous la blouse 🇫🇷🎙Scimple 🇬🇧 🥼Under the lab coat À écouter : Sur les plateformes audios Direct sur mon site www.elodiechabrol.com/my-podcasts Ou sur Youtube youtube.com/@souslablous...

I couldn't spot a starter pack for rare disease / clinical genomics, so I started one: go.bsky.app/SUWZ9Hw Very much a work in progress, and biased by who I have already found here, so please suggest people to add! Self-nominations encouraged. #ClinicalInformatics #genomics #bioinformatics 🖥️🧬