Development of an RNAi-based therapy for FSHD

Investigator: Joel R Chamberlain PhD

Category: Research - Translational

Our focus for therapy development is to prevent production of the disease-causing protein made from the DUX4 gene by targeting the cell instructions for the toxic protein, referred to as RNA. The recent discovery that it is possible to make RNA in FSHD muscle that is not made in healthy muscle supports our approach for therapy targeting the DUX4 RNA. If we eliminate the RNA, we eliminate the instructions for toxic protein production.

We can specifically target the RNA we want to destroy in cells in dishes in the laboratory, but our difficult task is to delivery it to muscle cells in the human body. A portion of our work focuses on further testing of FSHD-like cell models in the laboratory to see how well they function. At the same time, we are also focused on delivering our molecular medicine efficiently so that we can test whether it is powerful enough to do its task of preventing muscle damage in future studies. We are currently making these delivery shuttles.