@alex_geary@mstdn.social Bioinformatician CRDG lab (@nickywhiffin) human genetic disease and evolution. (she/her)
Manchester
Joined May 2009
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- Following664
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alexandra geary retweeted
🚨 The Whelan lab is hiring! 🚨 We are looking for a PDRA to join our lab at U of Manchester. We & collab @Mata_Lab are seeking someone interested in interdisciplinary techniques to est a hydrogel biofilm model to study microbe-pathogen interactions
jobs.manchester.ac.uk/Job/Jo…
alexandra geary retweeted
A reminder that this job opening is open for 1 more week! Come join us!
🚨 We're hiring! 🚨 We're looking for a Research Assistant to join our lab @ U of Manchester. We're seeking someone with experience in #microbiology & #microbiome to support our growing group. Note this isn't a postdoc role (though keep 👀 for those soon!) jobs.manchester.ac.uk/Job/Jo…
alexandra geary retweeted
Write up by the fantastic Laura Borg @OxPaediatrics featuring @swynn_unique, @quenchentin, Stephan Sanders, Suzi Walker, @CSOSue, and Jessica and Nicole, two wonderful RNU4-2 mums. Lovely pic of Nicole with 10-year-old Mia Joy ❤️ paediatrics.ox.ac.uk/news/ne…
alexandra geary retweeted
Frustratingly, the accelerated article preview is not open access 😔 but the full PDF can be accessed for free here rdcu.be/dNtiC
So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in @Nature nature.com/articles/s41586-0…
🧵 1/16
alexandra geary retweeted
So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in @Nature nature.com/articles/s41586-0…
🧵 1/16
(1/4) I’m delighted to announce that our research on RNU4-2 is now out on @Nature . This is an exciting finding that will bring many diagnoses worldwide. We have updated some new results since the preprint: nature.com/articles/s41586-0…
alexandra geary retweeted
Firstly, a huge thank you to all the patients and their families who so generously engage in research. We are in an incredible place in genomics, where we can replicate a finding across many global datasets with ease. This would be possible without this generosity. 3/16
alexandra geary retweeted
So happy to see this out, this was a truly special journey to be a part of! Seeing such a big team effort come together in real time was incredible ⭐️
So excited that our paper “De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome” is out today in @Nature nature.com/articles/s41586-0…
🧵 1/16
I had the enormous privilege of seeing @quenchentin and @nickywhiffin push really hard to get this work to as many families as possible, and have been honoured to contribute to this fantastic finding, released today in @Nature
(1/4) I’m delighted to announce that our research on RNU4-2 is now out on @Nature . This is an exciting finding that will bring many diagnoses worldwide. We have updated some new results since the preprint: nature.com/articles/s41586-0…
Next up - @DrJennyLord really driving home the importance of expanding to incorporate more varied data than protein coding alone. #GERS24
Photo was super blurry, but a great talk from @amarcobio in prostate cancer risk, and how imperative it is to consider diverse populations ⭐️
@DrABlakes talking about regional nonsense constraint quantification - super engaging and important work!
One of the highlights of my day so far - @vivienneparry declaring @quenchentin a “man to watch” ♥️
And now the awesome @RuebenaEDawes presenting our work looking into ways to rescue diagnoses using updated SpliceAI scores #GERS24
alexandra geary retweeted
For anyone at #GERS2024 in London today, I’m speaking at the Emerging Technologies stage at 11.35 on some SpliceAI reanalysis I’ve been working on with @Alextremophile ! 🧬
I’m super privileged to be watching @quenchentin presenting his work on RNU4-2 at #GERS24. It is an honour to have been a part of this work, and to see the impact it has had on participants is humbling.
Another fantastic and super well deserved award!
@ceclindgren is an absolute beacon of support and kindness and a superb science inspiration and I am so glad for her!
Absolutely awesome news!
@quenchentin absolutely nailed it under particularly stressful circumstances!
If you’ve not read it yet, his preprint is here: medrxiv.org/content/10.1101/…
A really excellent bit of work from an all round boss human! ♥️
alexandra geary retweeted
I’d be curious to know the number of RNU4-2 patients identified worldwide 7 weeks after preprint… Shall we count ? #eshg2024 #letscount
In Q&A, @emmagenetics thanks Yuyang for making the work available early as a preprint to facilitate rapid diagnosis, and highlights the impact on families. 🔥
alexandra geary retweeted
On April 8, @nickywhiffin posted a preprint on a new non-coding gene for intellectual disability; 3 days later another group submitted the same thing to @NatureMedicine with less data. It’s just published, no citation to the preprint. I thought genomics was past this grubbiness.
alexandra geary retweeted
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ???
I didn’t initially either, but here is the story of RNU4-2 🧵1/9
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.1101/… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!