Stunning illustration of how advances in cellular genomics can disentangle links between gene variants & clinical outcomes. Here, saturation editing revealed distinct neurodevelopmental disorders involving the same non-protein-coding gene. 🙌 @nickywhiffin.bsky.social @gregfindlay.bsky.social & co🧬🔬🧪

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Very interesting new work by @emiliewigdor.bsky.social @labnowakowski.bsky.social & colleagues on the regulatory architecture linking chromatin state, transcriptional output, and variation in verbal ability in autism 🧪🧠🧬 👇

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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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Latest research from my group. We activated BDNF protein expression by disrupting a repressive uORF using a CRISPR base editing strategy: www.sciencedirect.com/science/arti... #OxfordPaediatrics #IDRMOxford #BDNF #uORF #CRISPR #BaseEditing

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We also performed an exome-wide scan for novel genes associated with misalignment... ♀️Age at Menopause: We identified KANK1 as a gene associated with later-than-expected age at menopause, suggesting a potential protective role against primary ovarian insufficiency.

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