Boston (Watertown), MA—The NIH has awarded $9 million 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 the least, one in 20,000 individuals worldwide. The award will create the first Senator Wellstone Muscular Dystrophy Cooperative Research Center (MD CRC) to focus on FSHD, the award recipients announced today.
Headquartered at the Boston Biomedical Research Institute (BBRI), this center for excellence in muscular dystrophy will be the first ever in New England, and the first of these prestigious centers--named for the late Senator Paul Wellstone -- to focus on FSHD, the second most prevalent adult muscular dystrophy. The Wellstone MD CRCs themselves represent a paradigm shift in research because of their intensely collaborative nature and particularly because of their 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 new center and president 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.
In fact, both Emerson and Kunkel admit that without the advocacy of Daniel Paul Perez, FSHD patient, resident of Bedford, MA, and the founder and CEO of the FSH Society, the new Wellstone Center might not have become a reality. According to the two scientists, Perez has been fighting tirelessly behind the scenes and in front of Congress, the NIH and the scientific community for 20 years for funds, increased research and attention for this disease. "This is a victory for all of us," says Perez. "It represents decades of work by dedicated researchers, Society leaders and patients to find a research home for this disease." Perez was diagnosed as a toddler and has been the national leader for patients with FSHD since graduating from college.
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.
Economically, the Wellstone Center will have a positive impact, according to Bob Coughlin, president of Massachusetts Biotechnology Council, who believes it is just the kind of program that will strengthen the regional economy and the life science industry in Massachusetts. "The new 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."
In a congratulatory letter of support for the Wellstone Center, Senator Edward Kennedy wrote: "Beyond research, this new center will provide future medical health pioneers insight and knowledge into muscular disease treatment as well as promote national cooperation among top leading research centers."
"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 will be to educate and train the next generation of research and clinical scientists in an outstanding environment for muscle disease research.
Like the five other Wellstone centers established since 2002, the Boston center is the legacy of Senator Paul Wellstone, who was the Congressional champion of muscular dystrophy. Perez and the Senator worked on the original MD Care Act 2001 legislation together before the Senator's untimely death in a plane crash in 2002.
Facioscapulohumeral muscular dystrophy is the second most common adult-onset muscular dystrophy and currently has no treatment or cure. Perez notes, "The prevalence of FSHD is probably three times higher than previously thought given our increased experience with the disease and improved genetic testing for FSHD." Its major characteristic is weakening of the skeletal muscles, beginning in the face and slowly progressing to the shoulder and upper-arm muscles and then down to the abdominal and foot-extensor muscles. In the worst cases, all skeletal muscles are lost, hearing and vision are involved, and respiratory insufficiency can cause severe disability and even death.
In addition to Emerson, Kunkel and Perez, the center's network of collaborators includes Kathryn Wagner, M.D., Ph.D., The Johns Hopkins Hospital; Mayana Zatz, M.Sc., Ph.D., University of Sao Paolo, Brazil; Robert J. Bloch, Ph.D., University of Maryland School of Medicine; Woodring Wright, M.D., Ph.D., University of Texas Southwestern Medical Center; and Jeffery B. Miller, Ph.D., Boston Biomedical Research Institute.
The opening of the new Senator Wellstone Muscular Dystrophy Cooperative Research Center will take place at Boston Biomedical Research Institute at 64 Grove Street in Watertown, MA, from 4:00 to 6:00 pm on Friday, October 10th. The public will be welcome.
The Boston Biomedical Research Institute is a not-for-profit institution dedicated to the understanding, treatment, and prevention of specific human diseases such as muscular dystrophy, cancer, cardiovascular disease, and Alzheimer's disease. For more information, visit us on the web at www.bbri.org.
The FSH Society, a not-for-profit volunteer health organization founded in 1991, is located at the Boston Biomedical Research Institute and is a comprehensive resource for individuals with FSHD and their families. The FSH Society funds research into this genetic disease that leads to progressive muscle wasting and weakness. The disease affects between 330,000 and one million people worldwide. In addition, the Society provides research grants, advocacy, education and outreach to professionals, patients and advocates on their behalf. For more information on FSHD please see www.fshsociety.org.