The Pediatric Muscular Dystrophy Laboratory, in the James G. Cannon Research Center at Carolinas Medical Center, focuses on muscular dystrophy research, from congenital muscular dystrophy and limb-girdle muscular dystrophy (dystroglycanopathies), to Duchenne and Becker muscular dystrophy (dystrophinopathies), to unknown muscular dystrophies.
With funding from National Institutes of Health, the Pediatric Muscular Dystrophy Laboratory serves as Core C: Molecular Diagnostics and Cell Banking Core for the “Center of Research Translation: Systemic Exon-skipping in Muscular Dystrophy,” a project with Children’s National Medical Center and the University of Pittsburgh. The lab processes blood and tissues from patients with Duchenne and Becker muscular dystrophies to better understand exon-skipping therapy in muscular dystrophy.
With funding from the Muscular Dystrophy Association, the lab is identifying new genetic etiology of muscular dystrophy, using specific gene and whole-exome sequencing.
The clinical research conducted at the laboratory is connected to the Muscular Dystrophy Association clinic and our own McColl-Lockwood Laboratory for Muscular Dystrophy Research. Also, Carolinas Medical Center is one of the research sites of the Cooperative International Neuromuscular Research Group.
Carolinas Medical Center is one of the research sites of the Cooperative International Neuromuscular Research Group (CINRG).