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FSH Society Applauds Study Pinpointing Genetic Causes of FSHD, Most Common Muscular Dystrophy


WATERTOWN, Mass., Aug. 20 /PRNewswire/ -- "This is what we have all been working towards and fighting for," says Daniel Paul Perez, co-founder, president and CEO of the FSH Society and a 48-year-old patient with facioscapulohumeral muscular dystrophy (FSHD), applauding the researchers whose study on yesterday's ScienceXpress, the journal Science's online advanced edition, pinpoints for the first time the exact genetic mechanism triggering FSHD, the most common muscular dystrophy.

"At last we have what we need to begin developing therapies," says Perez, who began lobbying for research funding 25 years ago, founding the FSH Society along the way.

The study, "A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy," was conducted by researchers Drs. van der Maarel, Lemmers, Frants and Padberg, Leiden University, Netherlands; Dr. Tapscott, Fred Hutchinson Cancer Research Center, Seattle, Washington; and Dr. Tawil, University of Rochester Medical Center, New York.

"As the leader of a patient advocacy organization, I would like to call on the National Institutes of Health to immediately find ways to confirm and exploit the findings of these remarkable scientists, which I believe will generate great hope where there has been none."

FSHD, affecting one in 14,000 Americans and 460,000 worldwide, is a life-long, progressive, and severe loss of all skeletal muscles (beginning with the face, shoulders, upper arms and progressing to the legs and feet). The disease is both crippling and life shortening and can affect entire families. Until now, the exact genetic package has been unknown.

The Science study identifies a silent ancient gene in repetitive "junk" DNA that turns on under certain circumstances to cause FSHD. See yesterday's New York Times article.

According to MIT's Dr. David Housman, Chairman of the FSH Society's Scientific Advisory Board, the discovery "opens the door to new ways to prevent damage from being done and an eventual return to health for victims."

Executive Director, Nancy Van Zant says: "Patients ask every day for hopeful news. We are always optimistic, but now we have something very promising to tell them."

About the FSH Society

The FSH Society is a non-profit patient-led research, education and advocacy organization, founded in 1991, which frequently testifies before Congress and has fought for and obtained millions of dollars in funding for FSHD research. (

Source: FSH Society

CONTACT: Patti Jacobs for FSH Society, +1-617-864-2712,

Web Site:

Posted: August 2010