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PI: Joel Chamberlain PhD
Our studies for FSHD focus on developing a therapy. However, a limitation of this research is the lack of a good mouse model of the disease to test our therapeutic approach. The primary cause of FSHD is abnormal activation of the Dux4 gene, so mouse models need to reproduce production of Dux4. The main goal of our project for 2012 was to develop tools to force low-level production, or "expression" of DUX4 in mouse muscles using a variety of approaches. We are attempting to mimic what occurs in human muscle, since we now believe that localized low amounts of the DUX4 protein causes damage to muscle cells. Our approach is to deliver the gene for DUX4 to normal mice in several ways to try to mimic the program of muscle damage caused by DUX4 in patients. We tested a variety of combinations of delivery methods and versions of the DUX4 gene and successfully made and produced sufficient quantities of one of these to begin testing in mice. Also, knowledge gained from the attempts to construct other delivery/DUX4 gene combinations has informed us on what approaches to further develop to make better models for FSHD. Our work in the past year has laid the foundation for continued progress and we are optimistic that we will soon be able to have an effective model that will allow rigorous testing of genetic therapies in mice. If such tests are effective they can be tested in larger models and then moved into clinical trials.
See also 2011 year 2 grant for continuing research.