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New center to lead international muscular dystrophy research effort

The University of Rochester Medical Center (URMC) announced today that it has received a $7.1 million gift from New York developer and philanthropist Richard T. Fields for neurological research and care. The gift the largest private donation for a specific disease program in the Medical Centers history will create a research and clinical center of excellence for facioscapulohumeral dystrophy (FSHD), a form of muscular dystrophy.

The new Fields Center for FSHD & Neuromuscular Research will be an international collaboration between the URMC Department of Neurology and Leiden University Medical Center in the Netherlands. The long-term, uninterrupted funding will accelerate what has generally been an uncoordinated and fragmented research effort. It will also enable URMC to develop the clinical programs that will make the University a national referral center for patients with the disease.

I want to express my deep gratitude to Richard Fields for his generous gift and his vision to bring together the people and resources necessary to find new ways to understand, treat and perhaps even cure this disease, said Bradford Berk, M.D., Ph.D., CEO of URMC. Our scientists strongly believe that new breakthroughs are within our grasp and Richards support will help catalyze their efforts.

Richard Fields is the chairman and founder of Coastal Development, which co-developed the Seminole Hard Rock Casino and Hotel resorts in Tampa and Hollywood, Florida. The resorts, which opened in early 2004, are among the most successful in North America. Fields is on the board of the National Center for Missing and Exploited Children, a global leader in assisting families, law enforcement, and news media in locating missing or abducted children throughout the world. He is also a major donor and supporter of the New York City Police Foundation and Good Shepherd Service and is a board member or Farm Aid, a non-profit organization working to promote a strong and sustainable family farm-based system of agriculture throughout the country.

I have a personal family connection to FSHD, so I know the impact it has on families throughout the United States and the world, said Fields. The University of Rochester has long been a leader in muscular dystrophy research, so they were a natural fit to establish a center to focus on genetic and clinical research to FSHD patients. I see this gift as a significant step in giving this disease the medical attention it deserves, and hope that the Fields Center will be a center for leadership and innovation in the field for many years to come.

FSHD is one of the more common forms of muscular dystrophy. Most symptoms do not appear until the teen years, but the disease does also appear, albeit more rarely, in very young children and infants. The condition, which is genetic in origin, is characterized by a progressive weakness of muscles starting in the face, shoulder blades and upper arms. The age of onset, progression, and severity of FSHD vary and most individuals with the disease have a normal lifespan. However, as the disease progresses it can become debilitating; some 30 percent of patients eventually become wheelchair bound. Over time, the muscle weakness can also spread to other parts of the body.

While the disease is understood to be genetic in origin, the precise mechanism is unknown. It is related to a defect on chromosome 4 that in turn causes a genetic and molecular chain reaction that that results in progressive muscle wasting. Scientists have developed several theories over the years some complementary and others contradictory but efforts to resolve these differences and reach a consensus have stalled.

This is a very difficult disease to figure out in terms of what is going on, said URMC neurologist Rabi Tawil, M.D., director of the Fields Center. Research has been hampered by the fact that there are very few centers involved and centers that are dont have access to patients and patient resources necessary to move research forward.

The Fields Center will be the hub of an international network of scientific talent and resources necessary to propel FSHD research through greater coordination, collaboration, financial resources, and access to patients with the disease.

The first order of business will be to systematically check out all the genes in the area of chromosome 4 and sort out the precise nature of the disruption, said URMC neurologist Charles Thornton, M.D. Instead of the piecemeal approach that we have been limited to so far, we can now work with the best clinicians and scientists to methodically follow up every lead.

URMC will partner with Leiden University Medical Center (LUMC) in the Netherlands. LUMC has a strong international reputation for research in human genetics and will be involved in the molecular genetic studies, including detailed analysis of all DNA samples collected by the Fields Center. Scientists at Leiden were the first to map the genetic mutation for FSHD back in 1990 and continue to lead efforts to identify the underlying genetic cause of the disease.

Over the years we have seen an ever increasing complexity in the genetic cause of FSHD, said Silvere van der Maarel, Ph.D., professor of Medical Epigenetics at Leiden University Medical Center. However, we all feel that we are on the brink of new breakthrough discoveries. This timely donation will allow us to investigate the disease mechanism and follow up these breakthroughs at an unprecedented scale. Insight into a disease mechanism is instrumental to the identification of novel evidence-based intervention strategies.

URMCs Department of Neurology is home to the National Registry of Myotonic and FSHD Patients and Family Members. The registry which is funded by the National Institutes of Health (NIH) will enable Fields Center researchers to reach out to a large number of patients and recruit them into research projects. Because FSHD cannot yet be replicated and studied in animal models such as mice collection of blood DNA and muscle biopsy samples are essential for the success of the research projects. These samples will provide scientists with critical genetic clues as to the origin of the disease and will open to researchers new approaches for treatment.

In 2003, the University of Rochester was chosen to be home to one of three newly created Paul Wellstone Muscular Dystrophy Cooperative Research centers. The center is supported by the NIH and the Muscular Dystrophy Association. URMC is also home to the Muscle Study Group, an international consortium of investigators focused on developing new treatments for neuromuscular disease. These two networks will enable the Fields Center to recruit an international network of scientists and clinicians to both collaborate on FSHD research and quickly move new discoveries into clinical trials.

While researchers seek out new ways to treat and perhaps even cure the disease, the Fields Center will also develop clinical programs that will establish URMC as a national destination for FSHD patients. Currently, the symptoms of the disease are managed through a combination of physical therapy, bracing and in some cases, surgery. URMC will develop new standards of care for the diagnosis and management of patients with FSHD.

This is a wonderful opportunity to move forward a whole area of research and clinical care for an underserved disease, said URMC neurologist Richard Moxley, M.D., director of the Wellstone Center and the National Registry. The real key will be our ability to interact with a large population of patients who will be able to guide us toward a more clearly focused understanding of the disease.


Contact: Mark Michaud
University of Rochester Medical Center

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