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...

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

findaphd.com

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...

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

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

MRC four-year International PhD programme: Human Genetics, Genomics and Disease | IGC Graduate Research & Training | Institute of Genetics and Cancer

Applications now open.

edin.ac

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).

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...

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 ...

medrxiv.org

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...

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

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...

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

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 ❤️

@alexblakes.bsky.social · 12mo ago

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

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

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!

Nechama Wieder@nechamawieder.bsky.social · last yr.

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

You seem’d of late to make the law a tyrant

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...

The A The C The G The T

The Rayne · Single · 2025 · 2 songs

open.spotify.com

Love to my trans sisters, always. #TransRightsAreHumanRights

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.

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

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...

Nicky Whiffin@nickywhiffin.bsky.social · last yr.

🚨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

🚨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

This is excruciatingly painful to read, and also a really powerful reminder that the participants are always the heart of any study ♥️

Caroline Wright@carolinefwright.bsky.social · last yr.

"Remember that it's not only scientists that read your papers" - sage advice from author of a beautiful poem 'Proband', which began life as a response to our DDD NEJM paper, linking genomic science and its patients. www.consilience-journal.com/issue-17-pro...

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

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...

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.

If you have any questions about working as an editor at Nature Portfolio, please don't hesitate to reach out.

Barbara Marte@barbmarte.bsky.social · 2y ago

a great opportunity to join the Nature team: we're looking for a neuroscience editor, ideally with a strong record in systems neuro: springernature.wd3.myworkdayjobs.com/SpringerNatu...

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...

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...

elisagranato.com

Wonderful - absolutely wonderful! Can we replace her FRS with an award? 🏆 www.theguardian.com/technology/2...

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

theguardian.com

I often think it, but it is worth saying aloud - every day I am thankful for beepr ❤️ www.r-project.org/nosvn/pandoc...

🧬 🖥️ 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.

Replication stress underlies genomic instability at CTCF/cohesin-binding sites in cancer https://www.biorxiv.org/content/10.1101/2023.10.24.563697v1

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

biorxiv.org

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