The goal of the NIH-supported Boston Biomedical Research Institute Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center for FSHD is to further understanding of the underlying molecular and cellular pathology of facioscapulohumeral muscular dystrophy (FSHD) and to establish muscle tissue and cell repositories and biomarker databases as resources for FSHD research and evaluation of outcomes of FSHD clinical trials. The Center is led by Dr. Charles P. Emerson at the Boston Biomedical Research Institute, and Dr. Louis Kunkel at Children's Hospital Boston and Harvard Medical School, and includes investigators at Kennedy Krieger Institute, Johns Hopkins Hospital, Boston Biomedical Research Institute, University of Sao Paolo, University of Maryland School of Medicine, and the University of Texas Southwestern Medical Center. The Center is partnered with the FSH Society for patient outreach activities and with two biotechnology companies, Acceleron Pharma and Genzyme/Myosix, for therapeutic development.

The center is led by the following investigators: Charles P. Emerson, Jr., Kathryn R. Wagner, Mayana Zatz, Robert J. Bloch, Woodring E. Wright, Jeffrey Boone Miller, Daniel Paul Perez, and Louis M. Kunkel at the following institutions: Boston Biomedical Research Institute, Watertown, Massachusetts USA; Kennedy Krieger Institute, The Johns Hopkins University School of Medicine, Baltimore, Maryland USA;Universidade de Sao Paulo, Sao Paulo, Brazil; University of Maryland School of Medicine, Baltimore, Maryland USA; The University of Texas Southwestern Medical Center, Dallas, Texas USA; FSH Society, Inc., Watertown, Massachusetts USA; Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts USA; and Howard Hughes Medical Institute, Children's Hospital Boston, Boston, Massachusetts USA

The US National Institutes of Health (NIH) has awarded $9 million over a five year period to launch a unique collaboration of researchers, clinicians, patients, government research agencies and pharmaceutical/biomedical companies to study the causes and potential treatments for facioscapulohumeral muscular dystrophy (FSHD), a muscle weakening and disabling disease that affects, at least, one in 14,000 individuals worldwide. This award creates the first Wellstone Muscular Dystrophy Cooperative Research Center (MD CRC) to focus on FSHD.

Headquartered at the Boston Biomedical Research Institute (BBRI), this center for excellence in muscular dystrophy is the first ever in New England, and the first to focus on FSHD, the most prevalent muscular dystrophy. The Wellstone MD CRCs themselves represent a paradigm shift in research because of their intensely collaborative nature and mandate to include the patient advocacy organizations as a full partner in the research process.

"We see this as a unique opportunity to tackle a tough disease in the most efficient way to set the stage for development of therapies," says Dr. Charles Emerson, director of the center and of BBRI. "We have recruited the best minds in basic and clinical research and have an extraordinarily committed patient advocacy group to help us focus on this problem."

Co-director, Dr. Louis Kunkel, a professor of Genetics and Pediatrics at Harvard Medical School, director of the Genomics Program at Children's Hospital and an investigator with the Howard Hughes Medical Institute, agrees. "We believe this research center model will bring discoveries from bench to bedside more rapidly than the traditional model, because we already have the full participation of the people with the most at stake in our work -- the patients," he says.

Another major collaborator will be Acceleron Pharma, a biotech company that will partner with the Wellstone Center scientists and clinicians to determine the safety and effectiveness of a new class of drugs that enhance muscle mass and strength. The hope is that these drugs will help maintain muscle strength and physical function in patients with FSHD and other dystrophies.

Additionally, Genzyme Corporation will participate in the development of cell-based therapeutic approaches, which also have noteworthy promise.

Bob Coughlin, president of Massachusetts Biotechnology Council, believes this is just the kind of program that will strengthen the regional economy and the life science industry in Massachusetts. "The center at Boston Biomedical Research Institute will be a magnet for drawing talent into the state," says Coughlin, adding, "We applaud the partners of the Wellstone Center for their commitment to cooperating on this important project, which will expand our understanding of a devastating disease and bring together scientists and industry."

"Indeed, a major goal of ours is to make the work we do here available to the entire international scientific community," says Emerson, who sees the center as a resource to help anyone investigating FSHD or similar diseases.

The Wellstone center partners will identify molecular biomarkers to monitor the effectiveness of therapeutics during clinical trials and establish a repository of FSHD-diseased and normal muscle stem cells to provide the international community with the resources critically needed to develop and test new drug and cell-based therapeutics. A key component of the Wellstone Center is to educate and train the next generation of research and clinical scientists in an outstanding environment for muscle disease research.

Like the five other active Wellstone centers established since 2002, the Boston center is the legacy of Senator Paul Wellstone, who was the Congressional champion of muscular dystrophy.