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A Long-Awaited Mouse Offers a New Animal Model for FSH Muscular Dystrophy
Date:4/4/2013

our model may also serve well therapeutic intervention studies targeting DUX4 expression in skeletal muscle.”

The seed planted by the FSH Society generated additional major funding from other sources (including the Prinses Beatrix Spierfonds, National Institutes of Health, Muscular Dystrophy Association, Stichting FSHD, Friends of FSH Research, Fields Center for FSHD and Neuromuscular Research, the Geraldi Norton Foundation and the Eklund Family) to complete the ten-year analysis of the new mouse model. “I am very grateful to the Society for their longstanding support of our studies,” says Van der Maarel.

“Through advocacy and strategic investments in research, the FSH Society has helped bring the FSHD field to the threshold of drug discovery,” says June Kinoshita, Executive Director of the Society. But with the U.S. National Institutes of Health facing a $2.4 billion reduction in its budget because of the sequester, this is a critically important time for private donors and the public to keep funds flowing to FSHD research, she says. “We have to make sure patients today will be helped in their lifetimes.”

In addition to investing in scientific research, the FSH Society offers a community of support, news and information for FSHD patients and families, as well as to anyone experiencing symptoms and needs help finding qualified physicians to diagnose their condition. The Society was recently awarded its fifth consecutive Charity Navigator 4-star rating, placing it among the top-performing charities in America.

The FSH Society can be contacted at 781-301-6060 or on the Web at http://www.fshsociety.org.

Reference:
Krom YD, Thijssen PE, Young JM, den Hamer B, Balog J, et al. (2013) Intrinsic Epigenetic Regulation of the D4Z4 Macrosatellite Repeat in a Transgenic Mouse Model for FSHD. PLoS Genet 9(4): e1003415. doi:10.1371/journal.pgen.1003415

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