Ruby Dawes

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 🧵👇

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...

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

The role of untranslated region variants in Mendelian disease: a review - European Journal of Human Genetics European Journal of Human Genetics - The role of untranslated region variants in Mendelian disease: a review

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...

A flyer advertising four talks and one poster: Yuyang Chen - 11:30am Saturday 24th; talk (C01) - De novo variants in small open reading frames harbour new rare disease diagnoses Anthony McGuigan - 6:45pm Saturday 24th; talk (C09) - Gene knockouts across 120,404 individuals for novel rare disease gene discovery François Lecoquierre - 7:15pm Saturday 24th; talk (C09) - A map of predicted pseudoexons in human genes Hyung Chul Kim - 1pm Sunday 25th; poster (P18.006.A) - Rare variant association study reveals small open reading frames (smORFs) as novel regulators of cardiometabolic diseases Nicky Whiffin - 10:30am Monday 26th; talk (C29) - Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

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...

Two photos of Anna, a young white woman using an electric wheelchair, wearing a blue lab coat that fits her well with tables and dry-lab equipment in the background. Text reads: "A team of researchers and designers led by UCL is looking for wheelchair users working in wet lab environments to user-test what is believed to be the first-ever prototype of a lab coat adapted for wheelchair users."

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...

Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease - Genome Medicine Background Both promoters and untranslated regions (UTRs) have critical regulatory roles, yet variants in these regions are largely excluded from clinical genetic testing due to difficulty in interpre...

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 🧵):

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...

🚨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
🧬🖥️🩺

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congrats jenny!

congrats gareth! very well deserved!!

My son Charlie — and the breakthrough that changed our lives James Coney and his wife, Sarah, struggled not knowing why their 12-year-old was born with a severe learning disability. In their darkest moments, they blamed themselves. Then, out of the blue, came a...

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!

Congrats Emilie! Such a beautiful paper!

a couple of cartoon characters standing next to each other with one wearing a purple earring Alt: a couple of cartoon characters standing next to each other with one wearing a purple earring

📣 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...

I'm going great thanks! Hopefully we can catch up sometime when we are in the same country 😂

Congrats huw!

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

Picture of six people smiling in the snow in the city of Denver

A picture of Yuyang Chen giving a presentation. In the background a large screen has a slide saying "Variants in RNU4-2 cause a neurodevelopmental disorder (ReNU syndrome)". In the foreground, many people sit listening to the talk.

A poster is being presented while others listen.

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