My research group is devoted primarily to studying mechanisms of disease in muscular dystrophy, a group of inherited disorders that disrupt muscle function and cause muscle weakness, and developing new therapeutic approaches. In addition to muscular dystrophy, we are interested in clinical electrophysiology, myasthenia gravis and Cockayne syndrome--a neurogenetic syndrome involving the DNA repair process that affects both the central and peripheral nervous systems.
One of our laboratory projects focuses on genetic analysis in a specific type of muscular dystrophy called limb-girdle muscular dystrophy (LGMD). A significant proportion of patients with LGMD do not have mutations in the 18 LGMD genes discovered to date. Identification of the remaining genes would improve understanding of the overall muscular dystrophy disease process. We are therefore analyzing several large families with LGMD using linkage analysis and DNA sequencing tools, including whole-genome sequencing. We have already identified several novel mutations in known LGMD genes, 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.
Click to see an example of genetic linkage analysis in a family with LGMD.
Another project involves the investigation of stem cell therapy in animal models of muscular dystrophy, with the goal of optimizing the uptake of donor stem cells by skeletal muscle tissue. The focus will be on cells derived from bone marrow and umbilical cord blood samples.
A third project involves the study of utrophin activity in Becker muscular dystrophy. This protein is thought to help muscle fibers compensate for some of the biochemical problems that arise in this disorder. This work is funded by the William F. Milton Fund at Harvard University.
Our clinical electrophysiological investigations focus on observations in the Electromyography (EMG) Laboratory relevant to the diagnostic evaluation of patients with neuromuscular disease. In 2008, we and our colleagues described the first medical treatment for Cockayne syndrome, which may help with some of the neurological complications seen in this disorder.
In addition to the funding sources mentioned, we receive support from the National Institute of Neurological Disorders and Stroke (NINDS). We also participate in a muscular dystrophy clinical research network sponsored by the Muscular Dystrophy Association and the Pediatric Neuromuscular Clinical Research (PCNR) Network sponsored by the Spinal Muscular Atrophy Foundation.
About Peter Kang
Peter Kang graduated from Harvard College and the University of Pennsylvania School of Medicine. He completed a pediatric residency at Yale-New Haven Hospital, a pediatric neurology residency at Children's Hospital of Philadelphia, a clinical neurophysiology/neuromuscular disease fellowship at Beth Israel Deaconess Medical Center, a clinical neurophysiology/neuromuscular disease fellowship at Boston Children's Hospital, and was a research associate in the Howard Hughes Medical Institute laboratory of Louis Kunkel at Boston Children's Hospital.
Kang is a physician-scientist with interests in all aspects of neuromuscular disorders, although focusing primarily on the muscular dystrophies. He is a member of the executive committee of the Section on Neurology of the American Academy of Pediatrics and the Ethics, Law and Humanities Committee of the American Academy of Neurology, and was a recipient of the 2009 AMA Foundation Leadership Award. In 2010, he was elected assistant secretary-treasurer of the Massachusetts Medical Society, and was appointed to the Neurological Devices Panel of the U.S. Food and Drug Administration.