📢 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

🧬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...

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 👇🏻

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

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...

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

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...

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 🦋.

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 🖥️🧬