Surprise visit to @nickywhiffin.bsky.social’s lab! So nice catching up with old friends, meeting new ones, and a reminder that even though Sydney is home, Oxford can still feel like one too :) @ruebenadawes.bsky.social

New preprint led by super🌟 PhD student @eloisewells.bsky.social! Here we explore using exon-skipping to remove upstream open reading frames (uORFs) and increase protein translation as a therapeutic approach for rare haploinsufficient disorders 🧬 To learn more see Eloise's 🧵 👇

*A new pre-print on increasing gene expression!* 🧬📈 doi.org/10.64898/202...

hell yes! (another quote for you kartik)

Love when you can build a paper out of a personal bugbear! tl;dr the precomputed SpliceAI scores are great, but proceed with caution!

So proud of two postdocs in the team @alextremophile.bsky.social and @ruebenadawes.bsky.social. My role here was one of 'chief cheerleader' with this work truly led by these two superstars 🤩 The key take-home: be careful when using SpliceAI precomputed scores. Why? Read Alex's 🧵to learn more. 🧬💻🩺

🚨 New preprint led by amazing duo @rociorius.bsky.social and @alexblakes.bsky.social in collaboration with @cassimons.bsky.social, @dgmacarthur.bsky.social and many other amazing folks! ❤️ We describe the clinical phenotype of a recessive NDD associated with biallelic variants in RNU4-2 🧬 See 🧵👇

I am absolutely delighted to share our work describing a new *recessive* condition caused by variants in #RNU4-2. Yes, that #RNU4-2! tinyurl.com/3j9r56s8 @rociorius.bsky.social @yuyangchen.bsky.social @gregfindlay.bsky.social @dgmacarthur.bsky.social @cassimons.bsky.social @nickywhiffin.bsky.social

Super excited to share our new review paper - The role of untranslated region variants in Mendelian disease! www.nature.com/articles/s41...

ReNU syndrome in yesterday's Washington Post ❤️ The amazing families are pushing to raise awareness. The article shows how important that awareness can be: "His family just learned his diagnosis in April, thanks to a network of eagle-eyed moms". #mumPower www.washingtonpost.com/dc-md-va/202...

It's #eshg2025 #eshg25 time 🥳 Here is where you can catch the team over the next few days. Please go and say hi!

thanks so much for having me jodie!

Talk about impactful: ReNu syndrome linked to the RNU4-2 variation was discovered this time last year & now a global community has grown around those affected by the disease: www.renusyndrome.org/map

Come and join us @stannescollege.bsky.social on Tuesday 29th April at 17:30 for an evening of talks on the discovery of ReNU syndrome, from the key people involved. Register here for your free place: cpm.ox.ac.uk/event/the-di...

Do you know a UK-based wheelchair user who works in a lab and would be willing to user-test our prototype of what is believed to be the first-ever lab coat adapted for wheelchair users? Please share far & wide! Interest form: forms.office.com/e/66FhcQjqRT More info: www.ucl.ac.uk/ucl-east/new...

I am delighted to share with you the news that our shiny new paper has hit the shelves in Genome Medicine!! link.springer.com/article/10.1... Key points (A 🧵):

🚨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

A few weeks ago, I had an incredibly emotional call with James Coney, a writer for the Sunday Times whose son Charlie was in the @genomicsengland.bsky.social 100k project and was recently diagnosed with ReNU syndrome. This beautiful article tells their story ❤️ www.thetimes.com/article/0bcc...

it was lovely to have you christy!

The wonderful people I did my PhD with are looking for a bioinformatician to work on the ‘RNA for Rare Disease project’ (RNA4RD), in beautiful Sydney (best city in the world) - if you're in the market I can't recommend this opportunity enough!

📣 Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in Nature 📣 Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 www.nature.com/articles/s41...

lol thanks for exposing me @nickywhiffin.bsky.social ! Also it makes more sense when you see it with my messy desktop 😂

Back home and reflecting on a fantastic week at #ASHG24. It was wonderful to reconnect with friends, make new connections, and be surrounded by amazing science! 🧬 This was my first time attending ASHG with many of my amazing team (see below). They did an incredible job representing the group 🥰 1/2