Barrett, Lindy Elise PHD
Broad Institute of MIT and Harvard
INCLUDE Grants
Delineating a role for histone modifications in Down syndrome using human cellular models
This project investigates epigenetic dysregulation in Down Syndrome using human induced pluripotent stem cell (iPSC) models. In addition to uncovering basic mechanisms of Down syndrome that overlap with other neurodevelopmental disorders, epigenetic modifiers are an active area of therapeutic development and we speculate these data could uncover novel, clinically relevant targets for Down syndrome patients.
Dissecting the role of FMRP in RNA processing using hPSC models
The goal of this proposal is to elucidate fundamental molecular mechanisms of the RNA binding protein FMRP in relevant human cell types. Our preliminary data show that FMRP binds pre-mRNA targets in human embryonic stem cells and excitatory cortical neurons, and we will now test as series of hypotheses regarding FMRP’s role in RNA processing. As loss of FMRP is causative for Fragile X syndrome, these data have important implications for human disease biology.