Join us at the @crick.ac.uk for the 2026 meeting of the UK proteostasis community! We especially encourage students and postdocs to attend and share their work. All talks (except the keynotes) will be selected from abstracts.

Proteostasis UK@proteostasisuk.bsky.social · 6mo ago

📣 UK Proteostasis Meeting 2026 – Registration Now Open! I’m delighted to share that registration is now open for the UK Proteostasis Meeting 2026, hosted by The Francis Crick Institute on 20–21 July 2026
. Please register here(lnkd.in/ervXMzWN) and through Eventbrite for payment (lnkd.in/eTxqjnQy)

Our latest story is now on bioRxiv. We present PETRA, a new method for deciphering how sequence variants impact gene regulation at scale. www.biorxiv.org/content/10.1... This work was led by Magdalena Armas Reyes, a @crick.ac.uk PhD student until very recently. Congrats, Dr. Armas! 🧵 1/9

We each carry around six million variations in our DNA. Henry Scowcroft explores how scientists like @gregfindlay.bsky.social and @carovinuesa.bsky.social are helping unravel the effects of these variants, where even a small change can have a big impact on our lives. www.crick.ac.uk/news/2025-10...

Variants: the typos turning loss into hope

Across the 3 billion ‘letters’ of our DNA, we each carry around 6 million variations. Researchers are unravelling their effects on our lives.

crick.ac.uk

Just a few weeks left to apply for our clinical PhD programme. We're looking for clinicians who are passionate about research to join the 3-year fully funded programme. Learn more and see what positions are available ⬇️ www.crick.ac.uk/careers-and-...

Doctoral clinical fellows

The Crick's clinical PhD programme.

crick.ac.uk

Planning your afternoon poster session at #ashg25? Come say hello! This is an amalgamation of our two recent preprints - working with @gregfindlay.bsky.social , @cassimons.bsky.social , @dgmacarthur.bsky.social and many others to study variation across RNU4-2 and describe a new recessive NDD 🧬

Excited to be presenting our work on "Saturation mutagenesis of 37 human splicing factor genes using pooled prime editing" later today at #ASHG2025 during the Platform Session "RNA Functions Beyond Coding Sequences" (1:30-2:30PM, Room 205ABC).

Hello Boston! The lab is delighted to be at #ASHG25🧬 Check out our talks over the next few days - all unpublished stories. Kicking things off is @michaelherger.bsky.social presenting "Saturation mutagenesis of 37 human splicing factor genes with pooled prime editing". Today @2pm, Rm205abc Also 👇

We're recruiting early career Group Leaders this autumn! I cannot think of a better place to build a lab. Come join us! 👇

The Francis Crick Institute@crick.ac.uk · 10mo ago

We're now recruiting early career group leaders at the Crick to lead ambitious research programmes and explore bold scientific questions. Hear our Director, Edith Heard, explain why the Crick is a unique place for curiosity-driven research. Apply now ➡️ www.crick.ac.uk/careers-stud...

🚨 Applications to the Crick PhD programme are now open! We are pleased to be recruiting this year. 👇 www.crick.ac.uk/careers-stud...

We're looking for clinicians who are passionate about research to join our 3-year fully funded clinical PhD programme. 🔬🩺 Apply by 14 November 2025. 👇 www.crick.ac.uk/careers-stud...

Doctoral clinical fellows

The Crick's clinical PhD programme.

crick.ac.uk

We now have an open post-doc position in the lab: crick.wd3.myworkdayjobs.com/External/job... Please apply if you have a background in functional genomics or a related field and are eager to develop methods to map variant effects at scale.

Hugely thankful for this 🙏. We will do our best to make the most of it. @erc.europa.eu!

The Francis Crick Institute@crick.ac.uk · 11mo ago

Congratulations to @gregfindlay.bsky.social on being awarded a €1.5 million Starting Grant from the @erc.europa.eu to take a closer look at possible disease variants hiding in the dark genome. www.crick.ac.uk/news/2025-09...

We recently performed SGE of RNU4-2 and identified functionally impactful variants underlying a new recessive disease. Today, the team led by @rociorius.bsky.social @alexblakes.bsky.social @cassimons.bsky.social & @nickywhiffin.bsky.social provide in-depth analysis of its clinical presentation. 🧵⬇️

@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

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

Our latest research is out today on ‪@medrxivpreprint.bsky.social: www.medrxiv.org/content/10.1... Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk. Led by the amazing Phoebe Dace. This one’s packed full of data, so check out the paper. Quick highlights… 🧵 1/n

Saturation genome editing of BRCA1 across cell types accurately resolves cancer risk

Germline pathogenic BRCA1 variants predispose women to breast and ovarian cancer. Despite accumulation of functional evidence for variants in BRCA1 , over half of reported single-nucleotide variants (...

medrxiv.org

Check out @ckajba.bsky.social and Michael Herger's concise description of their recent work. Thanks to Nature Reviews Genetics for featuring this. rdcu.be/eraxZ

Determining variant effects with pooled prime editing

Nature Reviews Genetics - In this Tools of the Trade article, Christina Kajba and Michael Herger describe their screening platform, based on pooled prime editing, for large-scale functional...

rdcu.be

🚨In this issue🚨 A trio of papers provide key insights for integrating functional data into clinical variant interpretation #MAVE #VUS @dougfowler.bsky.social @clareturnbull.bsky.social @leastarita.bsky.social @gregfindlay.bsky.social @afrubin.bsky.social

Big congratulations to our very own Christina Kajba for winning a presentation award at #ESHG25. You can read all about her work here: www.cell.com/cell-genomic...

High-throughput screening of human genetic variants by pooled prime editing

Herger and Kajba et al. introduce a prime editing platform to screen genetic variants for functional effects in haploid human cells. Negative and positive selection screens identify loss-of-function v...

cell.com

European Society of Human Genetics@eshg.bsky.social · last yr.

#ESHG2025 Vienna Medical Academy Award: Best presentation in translational genetic reserach/therapy of genetic diseases. Christina Marie Kajba, London, UK "A pooled prime editing platform in haploid human cells for high throughput variant screening"

Join the Hallegger Lab in Oxford! A post-doc position available to develop neuronal cell models to characterise how TDP-43 aggregation leads to its dysfunction in MND. Highly collaborative project funded by My Name'5 Doddie Foundation @MNDoddie5 Please repost and share widely!

We're thrilled to introduce PromoterAI — a tool for accurately identifying promoter variants that impact gene expression. 🧵 (1/)

Chloe Terwagne at #VariantEffect25

Many thanks to Ke Wu and Francisco Sánchez-Rivera (@fsrmit.bsky.social) for nicely summarising our recent work in Cell Genomics. www.sciencedirect.com/science/arti...

It’s prime time for multiplexed prime editing

Prime editing screens allow precise and scalable studies of genetic variants in their native genomic context but are limited by variable editing effic…

sciencedirect.com

🚨 Fully-funded 4-yr MRes+PhD studentship @Imperial 🚨 Join our team (w/ Prof Hugh Brady @Imperial + Dr Jacob Bush @GSK) on an exciting PhD project developing a covalent cyclic peptide discovery platform with a focus on immuno-oncology targets 🔬🔥 📅 Deadline: 27 April 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...

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

Close all tabs and read this. Start with the preceding Nature paper. Trust me. This is cooler than liquid helium.

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

So thrilled to see our pre-print online. This was an incredible team effort and I am so proud to have been part of this amazing study, special thanks goes to @nickywhiffin.bsky.social and @gregfindlay.bsky.social for their mentorship. Go check-out Nicky's thread hereunder:

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

We're hiring again! Now looking for a postdoctoral fellow to join us on our mission to improve methods for testing human variants at scale. 🔎🧬🧪 Many potential projects to tackle, all in the top-tier research environment of the @crick.ac.uk. crick.wd3.myworkdayjobs.com/External/job...

It's getting late on Friday, so you know what that means: HHS has just updated its list of cancelled grants and programs. The document went from 14 pages long to 42 pages. Just an incalculable list of cancelled COVID-19 funding. taggs.hhs.gov/Content/Data...