NIH R01 · 2025
Human cortical development and neural plasticity altered by trisomy 21
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. There are fewer neurons in adult DS cortex and 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. We propose to build models based on human induced pluripotent stem cells (iPSCs), to interrogate how T21…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.