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DC2: Characterizing cortical neurons in Kabuki syndrome to understand biology and identify therapeutic targets – MAN

DC2 – (MAN) will attempt to understand the disease biology in the context of cortical neurons and build a system for drug testing. DC2 will first define the alterations of the chromatin states occurring at different differentiation stages -namely hiPSCs, neural progenitors, neural stem cells and mature cortical neurons. DC2 will profile the epigenetic changes at cis-regulatory elements combined with transcriptomics analyses to define the contribution of chromatin alterations during cell lineage commitment. DC2 will attempt to understand the disease biology in the context of cortical neurons and build a system for drug testing. DC2 will measure the cellular response upon treatment with leading compounds such as HDAC, LDS and ATR inhibitors. DC2 will also take advantage of the integrated data analyses to then tested drugs targeting the predicted regulatory circuitry.

*This position is funded by UKRI.

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