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Sep 9, 2009
Dr. Kyba's paper on linking high expression of mDUX to myoblast death.
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Aug 1, 2009
FSHD research continues to move forward with the generous help from the Friends of FSH Research. Dr Dan Miller at the University of Washington’s Institute for Stem Cell and Regenerative Medicine, and Dr. Stephen Tapscott at the Fred Hutchinson Cancer Research Center think that one possible cause of muscle weakness in FSHD is a defect in the generation of muscle tissue that may start before birth, and persist as muscles are continually modified and repaired throughout life.
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Jun 2, 2009
Facioscapulohumeral muscular dystrophy (FSHD), caused by partial deletion of the D4Z4 macrosatellite repeat on chromosome 4q, has a complex genetic and epigenetic etiology. To develop FSHD, D4Z4 contraction needs to occur on a specific genetic background. Only contractions associated with the 4qA161 haplotype cause FSHD.
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Jun 1, 2009
Several genes have been examined as candidates for causing FSHD, including the DUX4 homeobox gene in the D4Z4 repeat, but none have been definitively shown to cause the disease, or has the full extent of transcripts from the D4Z4 region been carefully characterized.
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Jun 1, 2009
Research on the cause and treatment of facioscapulohumeral muscular dystrophy (FSHD) might be entering a new, and hopefully better, era. For many years FSHD has been a difficult disease for medical researchers to study. In most genetic diseases, a gene with some known function is mutated and no longer performs its normal biological role. To find a treatment for such a disease, the medical researcher needs to identify therapeutic interventions that will compensate for the mutant gene.
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Aug 8, 2008
Dr. Tapscott aims to use this grant to identify the potential mechanisms that cause FSHD, identifying the molecular changes that result from the FSHD mutation.
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Aug 1, 2008
Dr. Kyba will insert D4Z4 repeats into the mouse genome in ES at a site on the X-chromosome, known to enable tissue-specific expression of transgenes, and to tolerate dominant lethal genes. He will study whether the presence of these repeats affects differentiation of the ES cells, and will produce mice bearing D4Z4 repeats, as a potential animal model for FSHD.
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Jul 19, 2008
Friends of FSH Research in collaboration with the MDA fund a two-year grant for Dr. Joel Chamberlain.
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Apr 15, 2008
$6.3 Million Dollar Grant for FSH Research — The Pathogenesis of FSHD.
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Jan 16, 2008
Miller & Tapscott provide a first year summary of progress.
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Aug 18, 2007
Seattle Time article on Friends of FSH Research