JULY 2007: Research Updates

Miller-Tapscott.  First Year Summary of FSHD research progress.

Gene expression profiling of cells from FSHD muscle biopsies suggests an intriguing hypothesis for the pathophysiological basis of FSHD: a primary defect in muscle cell differentiation.... In collaboration with Dr. Stephen Tapscott, we have identified gene expression profiles that appear to be unique to cells from FSHD patients. Now we can begin to focus on specific molecular pathways that are consistently altered in cells from individuals with FSHD, and attempt to identify gene regulatory elements that are common to the genes in a particular pathway.  Read more

DECEMBER 2006: Seattle FSHD Workshop

On December 1 & 2, we sponsored a workshop bringing together the brightest minds in FSHD research to present their latest findings and discuss the best avenues for future efforts. This unique workshop was co-sponsored with the Fisher-Shaw Foundation and the University of Washington's Division of Neurogenetics. Participants included researchers from across the country as well as from Europe, and the unique format of this workshop allowed open exchange of even unpublished and proprietary work and research techniques. Read more

2005: Research Updates

Principal Investigators:
Dr. Brian Kennedy (University of Washington)
Dr. Stephen Hauschka (University of Washington)

The genetic event leading to Facioscapulohumeral muscular dystrophy (FSHD) has been identified in a majority of affected patients. Unlike other neuromuscular diseases, however, the mutation linked to FSHD does not alter a known coding region of a gene. Rather, affected individuals have a reduced number of D4Z4 DNA repeats on the distal tip of chromosome 4q (4q35). These repeats are thought to be important for the establishment of heterochromatic regions of DNA. A majority of evidence suggests that FSHD might arise due to an insufficient number of D4Z4 repeats.   Read more