Poster: Spatial Multi-Omics Reveals Mutation Class–Specific Neurodevelopmental Perturbations in 8p Syndrome

    Chromosome 8p structural variants drive diverse neurodevelopmental phenotypes, yet their molecular effects remain unclear. Using AVITI24™ to integrate spatial transcriptomic, proteomic, and morphological profiling in iPSC-derived neuronal models, revealed mutation-specific disruptions to neural development.

    • 8p deletions reduced expression of genes involved in synaptic and neuronal differentiation
    • Inversion duplications disrupted RNA–protein spatial organization
    • Morphological profiling revealed distinct phenotypes across mutation classes

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