Posted by Friends of FSH Research on May 29, 2019
Note that the Chris Carrino Foundation shares in funding this multi-year grant.
This award provides support for professional dedicated lab personnel with exceptional expertise in FSHD research to both perform research and to train new investigators, graduate students, and postdoctoral fellows in FSHD research projects. This award supports four areas of FSHD research. It supports studies of muscle biopsies from FSHD individuals that identify the gene expression signatures that distinguish FSHD muscle from unaffected muscle. These studies are leading to a better understanding of why the muscles might function relatively normally in early life and then loose strength at later times. Not only will this help to plan clinical trials for FSHD, but it also will inform treatment strategies for preventing the progression of muscle weakness. The award also supports skilled scientists working to determine where DUX4 might be normally expressed. This study uses a mouse model with a reporter gene that will mark cells expressing the mouse version of the human DUX4. After determining where the mouse version of DUX4 is expressed, we can then look at human tissues for similar expression of the human DUX4. This award also supports studies that will determine how DUX4 is turned off by a set of compounds previously identified in a screen for drug-like compounds to treat FSHD. Although the identified compounds do not have drug-like characteristics and will not be used to treat people, determining how they turn off the expression of DUX4 will provide new targets for drug development. The final project supported by this award focuses on a set of proteins that disappear when DUX4 is expressed. We want to know whether the loss of these proteins contributes to the disease progression in FSHD, and the mechanism through which DUX4 causes their disappearance. If we identify the mechanism, this would be a new target for developing drugs to treat FSHD.