Muscular dystrophy

Children’s Hospital Boston has a long history of conducting innovative research on muscular dystrophy and other neuromuscular disorders. In fact, the gene responsible for Duchenne’s muscular dystrophy (DMD) and Becker’s muscular dystrophy (BMD) was first discovered here in 1986. That landmark finding revealed  one of the first genes ever connected to an inherited disease.

We constantly work to improve the care we are able to give our patients. We conduct numerous clinical studies on neuromuscular diseases, and we are one of five sites in the United States funded by the Muscular Dystrophy Association to conduct multi-center clinical studies. Our physicians also have strong ties to research laboratories at Children’s that are locating the molecular underpinnings of neuromuscular diseases and developing potential treatments.

Some of the current research on muscular dystrophy include:

Basil Darras, MD, Director, Division of Clinical Neurology also does research focused on the genetics, diagnostics and treatment of pediatric neuromuscular disease. One condition he specializes in is Duchenne muscular dystrophy (DMD), where he was one of the first to illustrate germline mosaicism in DMD, a biological phenomenon with important implications for the genetic counseling of affected families.

Learn more about Dr. Darras’ research on muscular dystrophy and spinal atrophy

Louis Kunkel, PhD, director of the Program in Genomics at Children's, made a landmark discovery in 1986 when he  identified dystrophin as the gene and protein altered in Duchenne-Becker muscular dystrophy.

Learn more about Dr. Kunkel’s current research on muscular dystrophies and other complex genetic diseases.

Alan Beggs, PhD, Director of the Manton Center at Children’s, focuses understanding of the structures and function of proteins that make up skeletal muscle fibers in order design more effective therapies for neuromuscular diseases in children.

Learn more about Dr. Beggs’ research on neuromuscular disease and congenital myopathies and visit the Beggs Laboratory website.

Peter Kang, MD, Assistant in Neurology and Director of the Electromyography Laboratory, is involved in research that examines the mechanisms of disease in muscular dystrophy (MD) and developing new approaches to treatment.

Genetic analysis in limb-girdle muscular dystrophy (LGMD) is the focus of one specific project. To date, a significant proportion of people with LGMD do not have mutations in the known LGMD genes. Because identification of the remaining genes would improve understanding of the overall muscular dystrophy disease process, Dr. Kang and his colleagues are analyzing several large families with LGMD using new DNA sequencing tools, such as whole-genome sequencing. So far, they have already identified several new mutations in known LGMD gene and hope to identify novel genes that cause LGMD and other muscle diseases. This work is currently supported by the Genise Goldenson Fund at Harvard Medical School and the Muscular Dystrophy Association.

Learn more about Dr. Kang’s research on muscular dystrophy.