Down syndrome iPSC derived neurons
Down syndrome iPSC derived neurons

Project keywords

Cell and Tissue Engineering, Health, induced pluripotent stem cells (iPSCs), Stem Cell, Amyotrophic Lateral Sclerosis, Neuromuscular junction

Project summary

A neural crest defect could explain many of the pathologies associated with Down syndrome (DS), such as craniofacial defects, tooth abnormalities, cardiac cushion defects and hirshprung disease. Gene expression analysis of  DS iPSC derived neural cell types reveals gene expression differences that are consistent with this hypothesis. Neural tube formation and neural crest behavior can be readily modeled with iPSC in vitro and neural crest migration can be readily modeled in vitro in microdevices and in vivo transplant experiments in the chick.  In this project we aim to perform genome editing of chromosome 21 in DS iPSC and use overexpression approaches in euploid cells to elucidate the gene regulatory networks that govern altered neural crest behavior. This project will further involve the development of SOX10 reporter iPSCs to allow neural crest cell purification. Connecting DS disease phenotypes with altered neural crest behavior may allow early developmental intervention and improvement of health outcomes for people with DS.

Project contacts

Lead investigator Associate Professor Ernst Wolvetang
Research group Wolvetang Group
Contact email


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