Alan Beggs, a professor of pediatrics at Harvard Medical School and director of the Manton Center for Orphan Disease Research at Children's Hospital Boston, has been awarded an MDA grant totaling $396,990 over three years. The funds will help support Beggs' research on the molecular genetics of congenital myopathies.
These are a diverse group of inherited neuromuscular conditions that include myotonia congenita, paramyotonia congenita, central core disease (CCD), nemaline myopathy, myotubular myopathy (MTM) and other centronuclear myopathies (CNM), periodic paralysis (PP), and others, including some that have not yet been identified.
They all result from defects in skeletal muscle that lead to weakness or abnormalities of muscle contraction of variable onset and severity.
Beggs and his colleagues have built an extensive data registry and repository of samples from patients and their families, supported in part by MDA.
"This repository has led to the identification of the underlying gene defect for many individuals," Beggs said. "However, the responsible genes for up to half the cases remain unknown."
Beggs has now started screening for congenital myopathy-causing mutations in zebrafish and has discovered mutations in several genes that may be related to human neuromuscular diseases.
In this new project, Beggs and colleagues will determine the nature of these new gene mutations and their relationships to the muscle defects seen in the fish. They'll then use this information to identify people with analogous muscle findings, in whom they will analyze the genes identified in the zebrafish.
The affected fish also will allow the investigators to test drugs and other interventions to treat congenital myopathies.
"In 1996, MDA provided my very first grant to study muscle development and function," Beggs said, "and ever since then, it has been a constant source of support and encouragement for my efforts to understand and treat congenital myopathies."
Funding for this MDA grant began August 1, 2011.
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