Investigator: Yosuke Hiramuki PhD
Category: Research - Translational
DUX4 is normally not expressed in skeletal muscles of healthy individuals and aberrant expression of DUX4 in skeletal muscles of FSHD patients causes pathology. Therefore, the repression of DUX4 expression in skeletal muscle is a therapeutic target for FSHD. Drugs that decrease DUX4 expression in a cell culture have already been identified. However, it is still unclear if these drugs will function in a whole living organism. In this study, we seek to validate the drugs in genetically modified mice in which we have engineered the human DNA sequences that regulate expression of DUX4. In this project, we will use these mice to monitor the activity of drugs targeting DUX4 expression in skeletal muscles. Therefore, this study would complement current drug validation studies, provide important insight to developing FSHD therapeutics in the living organism, and serve the field as a mouse model platform that can be utilized for new drug development.