Supplement to TR01 Human cortical development and neural plasticity altered by trisomy 21

University Of Wisconsin-Madison, Madison WI

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Abstract

ABSTRACT Down syndrome (DS, trisomy 21, T21), a complex multigene disorder and the most common genetic cause of intellectual disability. However, surprisingly little is known about the underlying mechanisms that lead to cognitive impairment in DS. Reduced neurogenesis and synaptogenesis have been implicated as features of DS development. Yet, what and how specific neurons and synaptic contacts are affected at which period of development and what molecular pathways underlie these defects that lead to intellectual disability remain unclear. This supplement application requests funding to expand the goals of the parent award to carry out bulk whole transcriptomics to identify diverse types of RNA species that cannot be captured using the single cell approaches in the parent award. These results will complement the single cell results generated from the parent award and potentially identify new gene regulatory mechanisms in DS brain development. The supplement proposal is relevant to Component 1 of the NIH INCLUDE project: Targeted high risk - high reward basic science studies in areas highly relevant to Down syndrome. Data generated from this award will be shared as a resource through the INCLUDE Data Coordinating Center (DCC) to maximize and accelerated research in Down syndrome.