INSTITUTES OF HEALTH
National Institute of Arthritis and
Musculoskeletal and Skin Diseases (NIAMS)
NIH NEWS RELEASE
FOR IMMEDIATE RELEASE
Thursday, November 13, 2001
Contact:
Ray Fleming
Office of Communications and Public Liaison
(301) 496-8190
flemingr@mail.nih.gov
NIAMS, NINDS FUND MULTIPLE RESEARCH GRANTS IN
FACIOSCAPULOHUMERAL DYSTROPHY
Research on facioscapulohumeral muscular dystrophy (FSHD),
a genetic disease of skeletal muscle, received a boost from
the award of six new grants by the National Institute of
Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and
the National Institute of Neurological Disorders and Stroke
(NINDS) at the National Institutes of Health. The
grants,
totaling $1.1 million, support both basic and clinical
research studies.
"These projects serve to increase the understanding of
this
disease and to develop better therapies, and ultimately,
find ways to prevent the disorder," said NIAMS Director
Stephen I. Katz, M.D., Ph.D. "We are encouraged
by the
hope that they bring to people with facioscapulohumeral
muscular dystrophy and their families."
FSHD is the third most common genetic disease of skeletal
muscle, affecting approximately one in 20,000 persons.
Symptoms may begin during infancy, late childhood or early
adulthood. The first sign is usually facial weakness,
with
difficulty smiling, whistling and closing the eyes.
Later
there is difficulty raising the arms or flexing the wrists
and ankles. This disease occurs in both sexes and in
all
racial groups.
The new NIAMS-funded studies include:
"Molecular Pathophysiology of Facioscapulohumeral
Muscular
Dystrophy via Genome-Wide Approaches", Yi-wen Chen,
Ph.D.,
Children's Research Institute, Washington, D.C. This
study
will compare clinically affected versus unaffected muscles
to help determine the primary cause of FSHD. Disease-
specific gene alterations will also be identified using a
broad set of genes. Further studies may determine how
these gene alterations may affect the severity of the
disease.
"Llama-Derived Phage Display Antibody Arrays for
FSHD",
Silvere M. Van Der Maarel, Ph.D., Leiden University Medical
Center, Al Leiden, Netherlands. Muscle-specific animal
antibodies will be used to study FSHD pathophysiology in
tissues and cell cultures of patients and controls.
This
project will ultimately attempt to gain insight into the
cellular and molecular processes leading to neuromuscular
system dysfunction in FSHD patients.
"Pathogenesis of Facioscapulohumeral Dystrophy",
Denise A.
Figlewicz, Ph.D., University of Rochester, Rochester, N.Y.
The aim of this project is to develop a better
understanding of the cause of FSHD. The project will
seek
to determine the abnormal intracellular processes in FSHD
muscle cells. Study results may help in the
development of
intervention strategies for long-term therapeutic effects.
The new NINDS-funded studies include:
"Analysis of the Molecular and Functional Role of D4Z4
in
FSHD Pathogenesis", Rossella G. Tupler, M.D., University
of
Massachusetts Medical School, Worchester, Mass. This
project aims to use studies of a specific gene sequence to
explain the cause of FSHD. The studies will provide
information to understand the molecular basis of FSHD and
to develop effective therapeutic strategies.
"The Sarcolemma in FSHD and in the myd Mouse",
Robert
Bloch, Ph.D., University of Maryland, Baltimore, Md.
This
study will use animal models and biopsies of human skeletal
muscle to better understand the biological changes that
occur in FSHD skeletal muscle. These changes will be
analyzed to determine if they are related to the
pathophysiology of FSHD and will be used in comparison with
other human muscular dystrophies. Aims of this
research
include determining if the biomechanical properties of the
membranes that surround muscle fibers are compromised by
FSHD.
"FSHD Syndrome: DNA Repeats, Methylation, and
Chromatin",
Melanie Ehrlich, Ph.D., Tulane University Health Science
Center, New Orleans, La. This study will explore whether
a
change in genetic structure causes inappropriate gene
expression in muscle cells affected by FSHD.
Researchers
hope that this will provide an understanding of the
molecular cause of this disease.
Funding for these projects comes on the heels of the
"Conference on the Cause and Treatment of
Facioscapulohumeral Muscular Dystrophy," held at the
NIH in
May 2000. This conference was co-sponsored by the
NIAMS,
the NINDS, the NIH Office of Rare Diseases, the FSH
Society, Inc., and the Muscular Dystrophy Association of
America. A summary of the conference is located at
http://www.niams.nih.gov/ne/reports/sci_wrk/2000/fshdsummar
y.htm.
The mission of the National Institute of Arthritis and
Musculoskeletal and Skin Diseases is to support research
into the causes, treatment and prevention of arthritis and
musculoskeletal and skin diseases, the training of basic
and clinical scientists to carry out this research, and the
dissemination of information on research progress in these
diseases. For more information about NIAMS, please
call
(301) 495-4484 or (877) 22-NIAMS (free call) or visit the
NIAMS Web site at www.niams.nih.gov.
The mission of the National Institute of Neurological
Disorders and Stroke is to reduce the burden of
neurological disease -- a burden borne by every age group,
by
every segment of society, by people all over the world.
For more information about NINDS, please call (301) 496-
5751 or (800) 352-9424 or visit the NINDS Web site at
For more information on facioscapulohumeral muscular
dystrophy, contact the following organizations:
Facioscapulohumeral Dystrophy (FSHD) Society
3 Westwood Road
Lexington, MA 02420
info@fshsociety.org
Tel: (781) 860-0501
Fax: (781) 860-0599
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
mda@mdausa.org
Tel: (520) 529-2000 or (800) 572-1717
Fax: (520) 529-5300
Muscular Dystrophy Family Foundation
2330 North Meridien Street
Indianapolis, IN 46208
mdff@mdff.org
Tel: (317) 923-6333 or (800) 544-1213
Fax: (317) 923-6334
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