This team’s central hypothesis is that effective treatments for Fragile X syndrome must directly target the underlying cause of the disease: silencing of the FMR1 gene. They will utilize novel approaches including CRISPR to reactivate the gene, with an aim of achieving a breakthrough in Fragile X research.
Until recently, it was thought that most Fragile X syndrome patients exhibited complete methylation and thus no FMR1 mRNA transcription. However, new studies reveal that a significant fraction of FXS cases show incomplete FMR1 methylation and continued FMR1 transcription. The degree of methylation exhibited correlates with FMR1 expression levels and impacts symptom severity. These results suggest that even small changes in FMRP expression might lead to marked improvements.
The goal of this project is to develop methods for augmenting transcription of the FMR1 gene.
