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. http://www.nytimes.com/2010/08/20/science/20gene.html?ref=science
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. (http://www.fshsociety.org/)
Source: FSH Society
CONTACT: Patti Jacobs for FSH Society, +1-617-864-2712,
Web Site: http://www.fshsociety.org/
Posted: August 2010