Summary
This proposal promises to bring new and more definitive understanding of how an extra chromosome 21 affects basic human cell function, early neurogenesis, and ultimately leads to neurodegeneration in Down syndrome (DS) and early-onset Alzheimer's disease (AD). The research uses a highly novel method of “trisomy silencing” (correction) by applying the mechanism of normal X chromosome inactivation in females to the extra chromosome 21 in DS stem cells. By uncovering differences in cell morphology/function and gene expression in DS, this study should lead to new understanding of genes and pathways that lead to the neurological and other developmental defects of DS as well as AD, and create a platform for future pre- clinical testing of therapies.
Down Syndrome Publications
Translational science of rare diseases2021
Developmental cell2020