The ASHG's prestigious Allan Award recognizes substantial and far-reaching contributions to human genetics carried out over a sustained period of scientific inquiry and productivity. According to the ASHG, Kunkel's work is unique in that it covers the entire spectrum of genetics-based research from identifying genes, to understanding how mutations of these genes cause disease, to finding new diagnostic techniques and new therapies and figuring out how to make them work.
Kunkel was the first to discover, in 1986, the gene that causes Duchenne muscular dystrophy, the most common form of muscular dystrophy. In 1987, he was the first to pinpoint the gene's importance in producing the critically needed muscle protein, dystrophin. In the 1990s, Kunkel demonstrated that injection of either blood stem cells or muscle stem cells can partially restore dystrophin in affected skeletal muscles, a finding that may lead to treatments for many types of muscle disease. More recently, Kunkel has defined the molecular and genetic characteristics of several dystrophin-associated proteins whose disruption also leads to muscular dystrophy.
Today, Kunkel continues to explore the role of these proteins and the more than 40 genes that have now been linked with various muscular dystrophies. His lab is using microarray (gene chip) technology to systematically examine the activity of multiple genes at once, seeking to find patterns common to all muscular dystrophies and those distinct to particular forms of the dise
Contact: Susan Craig
Children's Hospital Boston