Acronym Stem Cell Angelman Title Stem cell toolkit for modelling cerebellar dysfunction in Angelman Syndrome Summary

This project aims to investigate the role of cerebellar dysfunction in Angelman syndrome (AS) by using induced pluripotent stem cells (iPSCs) derived from patients and healthy individuals, as well as CRISPR/Cas9-edited isogenic human embryonic stem cells, to generate cerebellar organoids. These organoids will be used to analyze at the morphological, molecular and functional levels to provide insights into the neurodevelopmental defects of AS cerebellar organoids compared to controls. The ultimate goal is to establish a platform for drug screening to develop new therapies for the disorder.

Project webpage Start year 15/09/2022 End year 14/09/2025 ID n.a. iBB Role Coordinator iBB Budget 170 000,00 € Research Group SCERG PI Simão Rocha Project Partners n.a. Status Ongoing Funding Angelman Syndrome Alliance