Pre-clinical Investigation of Rett Syndrome Using Human Stem Cell-Based Disease Models.

Rett syndrome (RTT) is an X-linked neurodevelopmental disorder, mostly caused by mutations in . The disorder mainly affects girls and it is associated with severe cognitive and physical disabilities. Modeling RTT in neural and glial cell cultures and brain organoids derived from patient- or mutation-specific human induced pluripotent stem cells (iPSCs) has advanced our understanding of the pathogenesis of RTT, such as disease-causing mechanisms, disease progression, and cellular and molecular pathology enabling the identification of actionable therapeutic targets.