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RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of FSHD

— June 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.

The Beginnings of something new in FSHD Research?

— June 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.

Evaluating the stem cell hypothesis for FSHD

— August 8, 2008

Dr. Michael Kyba: Evaluating the stem cell hypothesis for FSHD

— August 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.

FSHD Grant Awarded to UW Researcher

— July 19, 2008

Friends of FSH Research in collaboration with the MDA fund a two-year grant for Dr. Joel Chamberlain.