Grants

Elevated mitochondrial fusion and function in Down syndrome

Summary

Down syndrome (DS) is a devastating condition that affects over a quarter of a million Americans. We have evidence that mitochondrial metabolism is fundamentally different in individuals with DS in such a way that it increases the risk of cumulative, oxidative damage over time. Here we will use the powerful new tools of CRISPR-Cas9 genomic editing and induced pluripotent stem cells derived from patients with DS to identify the molecular pathways responsible for these changes.