Dr Dan Miller along with Dr Steve Tapscott is able to alter skin cells so that they behave like muscle cells.  They have found that such cells from FSHD subjects have a different genetic profile compared to cells from persons without FSHD. This comparison provides clues for a better understanding of the genetic basis of FSHD. These investigators are also looking for important genetic codes that may be buried in the chromosme 4 region involved in FSHD (called D4Z4 and Dux4).  This genetic region may not be as “silent” as previously thought.

Dr Brian Kennedy working with Drs Joe Marx and Steve Hauschka have been studying a gene in the FSJHD chromosome 4 region called FRG1.  They have been investigating a mouse strain with muscle disease that produces too much of the FRG1 gene.  This special mouse strain may provide new insights about FSHD.  These investigators have found interesting changes in “myoblasts” (early developing muscle cells) from these mice that may be related to their muscle disease. They have also identified a protein that binds to FRG1 and that could also play a role in both the muscle disease and its treatment.

Our newest UW scientist, Dr Joel Chamberlain, also proposes to work with the FRG1 mouse model.  Her approach is to study a possible molecular treatment of the muscle disease in these mice.  This potential treatment is called RNA interference. It is a kind of “gene therapy” that can block abnormal or unwanted genetic codes. It is hoped that this approach could eventually prove of value for persons with FSHD.