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Alex Geary

@alextremophile.bsky.social
608 followers 485 following 40 posts

Postdoctoral Bioinformaticial in the Computational Rare Disease Genomics group (Nicky Whiffin). univ. Oxford 🧬💻 Loves Evolution, regulation, cheese and cats. She/Her

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Alex Geary @alextremophile.bsky.social · 04/09/2026
🎺 *fanfare* 📯 🚨 🎉 I am absolutely delighted to announce that we are recruiting for a PhD student to join the Fertility Research Edinburgh Supergroup (Myself, Margot Wyrwoll and Joris Veltman) 💫 at the university of Edinburgh. 🧬🧑‍🔬 ✨ institute-genetics-cancer.ed.ac.uk/igc-graduate...
institute-genetics-cancer.ed.ac.uk
Characterising the role of the spliceosome in dominant forms of monogenic male infertility | IGC Graduate Research & Training | Institute of Genetics and Cancer
Applications Now Open
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Alex Geary @alextremophile.bsky.social · 01/04/2026
I am excited to share that @wbickmor.bsky.social and I are offering a competitively funded PhD project on promoter diversity in vertebrates! www.findaphd.com/phds/project...
findaphd.com
EDCS - Understanding promoter diversity across vertebrates at University of Edinburgh on FindAPhD.com
PhD Project - EDCS - Understanding promoter diversity across vertebrates at University of Edinburgh, listed on FindAPhD.com
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Alex Geary @alextremophile.bsky.social · 02/03/2026
Know a super awesome postdoc who wants to come and work in a gorgeous city full of exciting science and wonderful people? We are recruiting! 💻 🧬🏴󠁧󠁢󠁳󠁣󠁴󠁿 elxw.fa.em3.oraclecloud.com/hcmUI/Candid...
elxw.fa.em3.oraclecloud.com
Post-Doctoral Research Associate in Computational Genomics
We are seeking a highly motivated Postdoctoral Research Associate in Computational Genomics to join our team at the University of Edinburgh. This is a unique opportunity to work on a cutting-edge proj...
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Institute of Genetics and Cancer @uoe-igc.bsky.social · 11/02/2026
Our final post for International Day of Women & Girls in Science is by @margotwyrwoll.bsky.social: "In my day-to-day work, I promote inclusion by mentoring early career researchers, being open about my own career path & advocating for fair recruitment and promotion processes." #EveryVoiceInScience
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Institute of Genetics and Cancer @uoe-igc.bsky.social · 06/01/2026
We are looking for the last ever intake of HGU PhD students to start in September. If you are passionate about biomedical research and are interested in doing a PhD, please apply by 11 January. Find out more here 👉 edin.ac/4srdd6t Apply here 👉https://edin.ac/49aBgPz
edin.ac
MRC four-year International PhD programme: Human Genetics, Genomics and Disease | IGC Graduate Research & Training | Institute of Genetics and Cancer
Applications now open.
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Alex Geary @alextremophile.bsky.social · 15/12/2025
It is a big day for me : a 🧵🪡 For the last five years I have had the absolute honour of being a postdoc in the 💜INCREDIBLE🩷 Computational Rare Disease Genomics group at the Nuffield Department of Medicine (@ndm.ox.ac.uk @ox.ac.uk), Uni. of Oxford (@ox.ac.uk).
Photograph of Computational Rare Disease Genomics group at a Christmas party.
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Alex Geary @alextremophile.bsky.social · 29/08/2025
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...
medrxiv.org
Using SpliceAI to triage splice-altering variants in 7,220 individuals with rare conditions highlights limitations of the precomputed scores
Background: SpliceAI is a deep learning algorithm that predicts whether genetic variants are likely to affect splicing. Precomputed spliceAI predictions for all theoretical SNVs and small indels were ...
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alexblakes.bsky.social @alexblakes.bsky.social · 18/08/2025
I learned so much from this work and I hope that and discoveries like this can make a real difference to the lives of people living with #RareConditions. Please do share! 😊 www.medrxiv.org/content/10.1...
medrxiv.org
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) ...
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alexblakes.bsky.social @alexblakes.bsky.social · 18/08/2025
The headlines? 1) Variants on both copies of #RNU4-2 cause a recessive neurodevelopmental disorder with prominent speech delay 2) One of the hallmarks is distinct white matter changes on MRI 3) It is clinically and genetically distinct from #ReNU syndrome www.medrxiv.org/content/10.1...
medrxiv.org
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) ...
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Alex Geary @alextremophile.bsky.social · 18/08/2025
An awesome piece of work by @alexblakes.bsky.social, @rociorius.bsky.social, @nickywhiffin.bsky.social and team! I am super excited to see more emerging from this tiny, but mighty gene, and am overjoyed at the implications this has for the rare disorders community ❤️
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Nechama Wieder @nechamawieder.bsky.social · 04/07/2025
3/ The review outlines how UTR variants cause disease, such as: - Create or remove upstream AUGs (uAUGs) - Alter splicing - Alter polyadenylation - Interfere with miRNA or protein binding
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Alex Geary @alextremophile.bsky.social · 04/07/2025
This is such an awesome review paper from @nechamawieder.bsky.social! UTRs are more than just 'buffers' for the coding sequence - they contain a wealth of important regulatory features!
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William Shakespeare @shakespeare.lol · 25/04/2025
You seem’d of late to make the law a tyrant
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Alex Geary @alextremophile.bsky.social · 25/04/2025
Want a Friday mood boost whilst also raising awareness of rare disorders? Then this fresh drop from the band of one of the GEL participant panel members is for you! ♥️🎶♥️ Play it loud, share it widely! (Beware - it is _extremely_ catchy!) open.spotify.com/album/1f2CAX...
open.spotify.com
The A The C The G The T
The Rayne · Single · 2025 · 2 songs
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Dr Zoë Ayres @zjayres.bsky.social · 16/04/2025
Love to my trans sisters, always. #TransRightsAreHumanRights
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the Mountain Goats @themountaingoats.bsky.social · 16/04/2025
if you are a cis person it costs you nothing to just say today that you see & hear your trans sisters & brothers & others over in the UK today -- and around the world, too, knowing that rulings like today's ripple out in ugly ways.
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Alex Geary @alextremophile.bsky.social · 14/04/2025
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 🧵):
link.springer.com
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...
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Greg Findlay @gregfindlay.bsky.social · 11/04/2025
We're quite excited about this story as it showcases the power of SGE to dissect non-coding genes and to uncover new disease associations and diagnoses. This has, indeed, been an excellent collaboration...
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Nicky Whiffin @nickywhiffin.bsky.social · 11/04/2025
🚨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
medrxiv.org
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...
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Alex Geary @alextremophile.bsky.social · 10/04/2025
This is excruciatingly painful to read, and also a really powerful reminder that the participants are always the heart of any study ♥️
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Alex Geary @alextremophile.bsky.social · 02/03/2025
Super late to rare disease weekend, but how awesome is this lady! A stellar scientist, advocate for the rare disease community, mentor, & person. As a rare human, I’m so glad that people like Nicky are doing their absolute best for the rare condition community ♥️ @nickywhiffin.bsky.social
Photo of Nicky Whiffin, the principal investigator of the Rare Disease Genomics group at the university of Oxford. She is smiling in front of a lush green hedge, wearing an excellent teal dress.
The caption reads “Nicky Whiffin, whose team at Oxford University discovered ReNU syndrome’
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Alex Geary @alextremophile.bsky.social · 27/02/2025
I had the honour of accompanying the wonderful Yuyang Chen to the Genetic Alliance #rareDiseaseDay2025 reception today. It was fantastic to meet so many incredible people, and hear such powerful stories. Read the anthology “More than you can imagine” here: geneticalliance.org.uk/campaigns-an...
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Alex Geary @alextremophile.bsky.social · 28/11/2024
Non Science post - I tried to book a GP appointment. They now use an online system requiring an online consultation. This includes a bot that suggests some vaguely horrifying possible diagnoses, and many irrelevant questions. I did submit it - many won't. I still don't have an appointment.
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Gabrielle Brewer @gabriellebrewer.bsky.social · 26/11/2024
If you have any questions about working as an editor at Nature Portfolio, please don't hesitate to reach out.
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Elisa Granato @prokaryota.bsky.social · 26/11/2024
Failure is a cornerstone of scientific research, but it still feels bad. Here is a short article I wrote on how to mentally deal with "failed" experiments. Does a truly "failed" experiment actually exist?? @academic-chatter.bsky.social #academicsky #microsky elisagranato.com/phd-tips-dea...
elisagranato.com
PhD Tips – Dealing with “failed” experiments - Elisa Granato
PhD Tips - Dealing with "failed" experiments "PhD Tips" is a series of articles aimed at graduate students at the University of Oxford (Department of Biology). I wrote this in April 2021. [This articl...
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Alex Geary @alextremophile.bsky.social · 25/11/2024
Wonderful - absolutely wonderful! Can we replace her FRS with an award? 🏆 www.theguardian.com/technology/2...
theguardian.com
Oxford scientist resigns from Royal Society over Elon Musk’s continuing fellowship
Prof Dorothy Bishop said fellowship was ‘a contradiction of all the values’ of UK’s national academy of sciences
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Alex Geary @alextremophile.bsky.social · 07/11/2023
I often think it, but it is worth saying aloud - every day I am thankful for beepr ❤️ www.r-project.org/nosvn/pandoc...
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Kristin @klewis.bsky.social · 27/10/2023
🧬 🖥️ For our genetics/genomics friends visiting #ASHG23, you can follow the conference's conversation on this feed: bsky.app/profile/did:... Just use #ASHG23 (or #ASHG2023) to post to the feed.
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bioRxiv Genomics @biorxiv-genomic.bsky.social · 27/10/2023
Replication stress underlies genomic instability at CTCF/cohesin-binding sites in cancer www.biorxiv.org/content/10.1101/202…
biorxiv.org
Replication stress underlies genomic instability at CTCF/cohesin-binding sites in cancer https://www.biorxiv.org/content/10.1101/2023.10.24.563697v1
CCCTC-binding factor (CTCF) and cohesin play a significant role in the formation of chromatin loops
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Lorraine Santy @lorrainesanty.bsky.social · 18/10/2023
Penn State BMB is hiring! Two tenure-track/tenured positions. One in Gene Regulation: psu.wd1.myworkdayjobs.com/PSU_Academic... Second in Cryo-EM/Cryo-ET psu.wd1.myworkdayjobs.com/en-US/PSU_Ac... #WomenInSTEM
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