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Leading experts on congenital muscular dystrophy convene at University of Nevada, Reno

RENO, Nev. The nation's leading scientists and clinicians exploring treatment breakthroughs for congenital muscular dystrophy will convene April 22-24 on the campus of the University of Nevada, Reno, where research by Dean Burkin has led to a potential therapy.

At the Myomatrix 2012 conference, experts will share their latest data and findings both published and soon to be published research seeking ways to build on recent progress.

Burkin, a pharmacological researcher and faculty member at the University of Nevada School of Medicine, will present his work on laminin-111, a naturally occurring protein showing promise as a therapy for muscular dystrophy. Burkin's published research showed this protein is quickly picked up in the bloodstream of mice and prevents muscle damage. Initially shown to be an important finding for Duchenne muscular dystrophy, the most common form of muscular dystrophy, Burkin's continued research, recently published in the American Journal of Pathology, shows laminin-111 to also be an effective protein substitution therapy for congenital muscular dystrophy in mice.

The University of Nevada, Reno's Tech Transfer Office has licensed the patent for laminin-111 to Prothelia, a Boston biotech company working to develop a human version of the protein for further testing and clinical trials.

"This conference will push the science forward and potentially define the pathway for future development and therapeutics, with the aim of translating research into potential therapies for patients," said Burkin.

The name of the conference, Myomatrix 2012, signals the scientific progress being made on a potential treatment for congenital muscular dystrophy. The first national conference on congenital muscular dystrophy, held in 2009 in Atlanta, took a broad look at the science and therapeutic options being explored at that time. Since then, findings have led the scientific community to center its work on the myomatrix, which is the junction between muscle and the extracellular matrix.

"The extracellular matrix is the front lawn of the muscle cell, long ignored and now recognized to be a leading player in driving the relentless progression in congenital muscular dystrophy," said Anne Rutkowski, physician researcher and chairperson for Cure CMD, a national nonprofit organization dedicated to congenital muscular dystrophy research and education and a Myomatrix 2012 sponsor.

The conference will focus specifically on the myomatrix, establishing the current state of knowledge, exploring new mechanisms, developing collaboration and synergy between existing projects, defining key areas of future and developing research, and building a roadmap that defines myomatrix in its development, healthy and diseased states.

"The singular focus (of Myomatrix 2012) marks a step ahead since the last meeting," said Burkin. "At this point we are seeing the fruition of the scientific community's work. It's beginning to filter out. It's time to ask ourselves if we have covered all the bases, if there is other basic science research or other targets to explore.

"It's possible that if we discover a common pathway or mechanism, we might be able to treat the diseases with a single drug," said Burkin.

Congenital muscular dystrophy is a rare group of diseases that causes muscle weakness at birth. Several defined genetic mutations cause muscles to break down faster than they can repair or grow. A child with congenital muscular dystrophy may have various neurological or physical impairments.

"Some children never gain the ability to walk, while others lose this ability," said Rutkowski. "Investing in science and Myomatrix 2012 brings hope that one day all children and adults with CMD can participate in a clinical trial."

Myomatrix 2012 has received grant funding from the National Institutes of Health and the support of three NIH research institutes, the Office of Rare Diseases, the National Institutes of Arthritis and Muscular Skeletal and Skin Disease and the National Institute of Neurological Disorders and Stroke (NINDS). Additional funding support and sponsorship is provided by Cure CMD, Muscular Dystrophy Association, LGMD21 Foundation, Cellular Dynamics Inc., University of Nevada, Reno and several pharmaceutical companies including PTC Therapeutics, Santhera, AVI BioPharma, Genzyme and Ultragenyx.

"To win the battle against rare disease takes a community of scientists, families, doctors, advocacy, government support and the pharmaceutical sector," said Rutkowski.

Burkin agreed, noting that seeing experts and resources comes together "gives patients and their families hope, especially when we are talking about rare diseases."

Joining Burkin and Rutkowski as conference organizers are Carsten Bonnemann, a senior investigator with NINDS and director of its Neuromuscular and Neurogenetic Disorders of Childhood Section; Kanneboyina Nagaraju, associate professor of pediatrics and director of the Murine Drug Testing Facility at the Children's National Medical Center; and Gabrielle Kardon, associate professor of human genetics at the University of Utah.

Myomatrix 2012 will take place at the University of Nevada School of Medicine's Center for Molecular Medicine in Reno. For more information about congenital muscular dystrophy or the Myomatrix 2012 conference, visit


Contact: Mike Wolterbeek
University of Nevada, Reno

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