Investigator: Jong-Won Lim PhD
Category: Research - Basic
My research goal is to understand how DUX4, the FSHD causing gene embedded in D4Z4 macrosatellite repeat, keeps silenced in non-disease condition and how this gene escapes silencing in FSHD. I believe better understanding of DUX4 gene regulation will help us to develop efficient therapeutic intervention to block muscle wasting caused by aberrant DUX4 expression in FSHD condition and to promote regeneration of muscle tissue. During past few years I have shown that endogenous small RNA generation from D4Z4 is necessary to maintain DUX4 silencing and reagents that mimic D4Z4 small RNAs can efficiently repress DUX4 expression. Here I propose to define key components of RNA-mediated gene silencing and FSHD-specific changes affecting silencing mechanism to develop the best targeting strategies for FSHD treatment. In addition, I will study novel FSHD-related small RNAs that may be used as biomarkers or new therapeutic targets for FSHD.