Gaurav K. Varshney

Nov 3, 2024 | nature.com | Yang Liu |Wei Qin |Jiawang Xiao |Gaurav K. Varshney |Ji-Feng Fei

AbstractCytosine base editing is a powerful tool for making precise single nucleotide changes in cells and model organisms like zebrafish, which are valuable for studying human diseases. However, current base editors struggle to edit cytosines in certain DNA contexts, particularly those with GC and CC pairs, limiting their use in modelling disease-related mutations.

Aug 21, 2024 | nature.com | Emily Banks |Sheng-Jia Lin |Vladimir S. Fonov |Maxime Lévesque |Armin Bayati |Fowzan S. Alkuraya | +28 more

AbstractDevelopmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a membrane trafficking protein, and develop animal models with phenotypes like the human syndrome.