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...
Geneticists have uncovered a previously hidden neurodevelopmental condition, showing how variations in a single gene can give rise to distinct disorders and deepening understanding of their biological...
We're recruiting early career Group Leaders this autumn! I cannot think of a better place to build a lab. Come join us! 👇
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...
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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]
Saturation genome editing of RNU4-2 identifies the functional and clinical impact of variants across the entire gene and delineates variants that cause a new recessive neurodevelopmental disorder distinct from ReNU syndrome.www.nature.com
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....
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/)
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...
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...
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.
www.medrxiv.org
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) ...
