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New center to lead international muscular dystrophy research effort
Date:10/25/2007

d 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
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Contact: Mark Michaud
mark_michaud@urmc.rochester.edu
585-273-4790
University of Rochester Medical Center
Source:Eurekalert

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