A single-cell multiomic atlas of human cortical development in Down syndrome identifies candidate mechanisms underlying intellectual disability
Michael Lattke, Jon Conesa, Mickey Hughes, Vincenzo De Paola · FENS Forum 2024
Down syndrome is a common neurodevelopmental condition and major genetic cause of intellectual disability. Although trisomy of chromosome 21 is long known as underlying cause, it is not well understood how the increased dosage of over 300 genes on chromosome 21 perturbs transcriptional and epigenetic programmes underlying neural differentiation, and effective therapies are lacking. Mouse models have suggested potential underlying mechanisms, but it is unclear to what extent these are recapitulated in the human brain.Here, we use single cell transcriptomics and epigenomics to generate an atlas
ePoster · Neuroscience