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
Ruby Dawes
@ruebenadawes.bsky.social
Sydney girl, Fulbright recipient 2020-2021 with Monkol Lek. PhD Kids Research Sydney 2022, now postdoc with @nickywhiffin.bsky.social at BDI Oxford. Splicing & smORFs!
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 🧵 👇
Eloise Beer Wells@eloisewells.bsky.social · 9mo ago*A new pre-print on increasing gene expression!* 🧬📈 doi.org/10.64898/202...
*A new pre-print on increasing gene expression!* 🧬📈 doi.org/10.64898/202...
Modulating splicing in five prime untranslated regions to treat rare haploinsufficient disease
Rare genetic disorders collectively impact over 300 million people worldwide, yet around 95% have no specific treatments. For the many rare disorders caused by haploinsufficiency, effective therapies ...
doi.org
hell yes! (another quote for you kartik)
Kartik Chundru@chundru.bsky.social · 10mo agoNew paper on everyone’s favourite topic, QC! We show why you should do genotype-level QC on your WGS data www.biorxiv.org/content/10.1... Very real quotes about this paper - “The most exciting, mind-blowing paper of the year!” “On a par with Fisher 1918” “I read it every night. Just so beautiful”
Love when you can build a paper out of a personal bugbear! tl;dr the precomputed SpliceAI scores are great, but proceed with caution!
Alex Geary@alextremophile.bsky.social · last yr.I am super proud to present our new manuscript “Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores” www.medrxiv.org/content/10.1...
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. 🧬💻🩺
Alex Geary@alextremophile.bsky.social · last yr.I am super proud to present our new manuscript “Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores” www.medrxiv.org/content/10.1...
🚨 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 🧵👇
@alexblakes.bsky.social · last yr.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
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
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) ...
medrxiv.org
Super excited to share our new review paper - The role of untranslated region variants in Mendelian disease! www.nature.com/articles/s41...
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
nature.com
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...
Their children have a rare condition. They didn’t know its name – until now.
Five families with children who have the newly discovered rare condition, ReNU syndrome, recently gathered in a D.C. park. Scientists believe 100,000 more people have it.
washingtonpost.com
The Washington Post@washingtonpost.com · last yr.Five families with children who have a newly discovered rare condition recently met in a D.C. park. Scientists believe 100,000 more people have it.
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 🧵):
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...
link.springer.com
🚨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
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...
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...
thetimes.com
it was lovely to have you christy!
Christy LaFlamme (she/her)@cwlaflamme.bsky.social · 2y agoI want to extend a huge thank you to the @nickywhiffin.bsky.social lab for having me this past month to work on various projects using the @GenomicsEngland data. I learned a ton during my time @ox.ac.uk and continue to drink tea at least 3 times per day. Cheers!
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!
linkedin.com
📣 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...
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
media.tenor.com
lol thanks for exposing me @nickywhiffin.bsky.social ! Also it makes more sense when you see it with my messy desktop 😂
Nicky Whiffin@nickywhiffin.bsky.social · 2y agoWhen you go to say hello to the team and one of them just has this, full screen, on their computer ... 😬😂 @ruebenadawes.bsky.social
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
