joachimdejonghe.bsky.social

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:

While mapping mutations in a single gene, researchers have uncovered a previously hidden neurodevelopmental condition. Clinical collaborators have already diagnosed 38 individuals with this newfound condition, known as recessive ReNu syndrome. www.crick.ac.uk/news/2026-04...

Super excited that our two companion papers on saturation genome editing (SGE) of RNU4-2 and discovery of a novel recessive neurodevelopmental disorder (NDD) were published yesterday 🥳 SGE experiment: www.nature.com/articles/s41... Recessive NDD characterisation: www.nature.com/articles/s41... 🧵

Ultra-low-field brain MRI morphometry: T-RT reliability and correspondence to high-field MRI | doi.org/10.1162/IMAG... | w/ !! FREE DATA !! T1w & T2w scans of 23 healthy participants from 3T GE Premier & 2x 64mT Hyperfine Swoop in many resolutions, i.e. 390 scans! openneuro.org/datasets/ds0... [1/n]

This was a great collaboration with @joachimdejonghe.bsky.social and @chloeterwagne.bsky.social

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

Following this, @joachimdejonghe.bsky.social and @gregfindlay.bsky.social led a beautiful saturation genome editing study to help clarify the impact of mutations across the full length of #RNU4-2. Here’s the study on @medrxivpreprint.bsky.social: www.medrxiv.org/content/10.1....

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

Thrilled to re-share our tweetorial on Bluesky: now out in @cp-cell.bsky.social (🔗 tinyurl.com/3a55tsky) - we present a framework to accelerate variant classification, diagnosis & treatment of inborn errors of immunity. A dream MD/PhD project, which has already led to the treatment of a patient.

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

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

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...

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...

Hats off to @joachimdejonghe.bsky.social for overcoming some major hurdles to pull this off. And many, many thanks to @nickywhiffin.bsky.social and co for taking SGE data to new heights. It's been amazing to see how fast things can move once we know precisely which variants matter.

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

In what is becoming a pretty well-oiled routine, Nicky reached out to see if we had Australian hits, and minutes later @cassimons.bsky.social had found a bunch of them. Now over 20 families diagnosed globally, many with unusual white matter changes - a distinct new recessive syndrome.

Not only is this seriously elegant science from @gregfindlay.bsky.social, @nickywhiffin.bsky.social and friends - using saturation editing to define variant impact in RNU4-2 - it also defines *another* new syndrome associated with this fascinating non-coding RNA gene.