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Spotlighting Rare Diseases Research Blog

Reactivating the Silenced X Chromosome: A Potential Therapeutic Approach to CDKL5 Deficiency and Rett Syndrome

Posted On: Jun 6, 2019


Several years ago, we began investigating the mechanism by which genes are turned off on the X chromosome — a process termed X chromosome inactivation (XCI). In females, XCI is a naturally occurring phenomenon in which one of the X chromosomes is randomly turned off, or silenced, as a way to equalize the dosage of the X chromosome between females (who have two X chromosomes) and males (who have one).

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