NIH R01 · 2024
PROJECT SUMMARY. Despite knowing for more than 60 years that three copies of chromosome 21 (chr21, T21) is the genetic cause of Down syndrome (DS), we still know relatively little about how T21 drives the vast majority of DS pathophysiology. Over the last several decades, alterations in the response to diverse environmental stress conditions, such as oxidative stress, the unfolded protein response, the integrated stress response, and immune signaling, have been identified in T21 cells and mouse models of DS. Indeed, we have shown that the interferon (IFN) response is constitutively active in T21 cells, leading to an interferonopathy-like state of global immune dysregulation, likely due to…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.