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.
This was a great collaboration with @joachimdejonghe.bsky.social and @chloeterwagne.bsky.social
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
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...
🧵
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...
We're recruiting early career Group Leaders this autumn! I cannot think of a better place to build a lab. Come join us! 👇
Zach Walsh
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
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]
