His research interests cover a broad spectrum, including inherited diseases of humans and mice and cancer. He has been involved with the genetic mapping of the genes for a number of human disease including Pelizaeus-Merzbacher disease and Gerstmann-Straussler Scheinker disease as well as studies of the mouse genes for androgen binding proteins (ABPs) and the weaver and purkinje cell degeneration neurologic mutant mouse models. Studies of Pelizaeus-Merzbacher disease, a disorder of myelin in the brain, included the identification of many of the first disease-causing mutations known worldwide. For mouse ABP, what began as a study of a sex-influenced salivary protein polymorphism, have evolved to studies of a rapidly involving gene duplication system that may be associated with mate recognition and mouse subspeciation. Much of his recent research effort comprises biospecimen (e.g., DNA and cell) repository activities for a number of neurologic disorders including Alzheimer disease and Parkinson disease. Molecular and biochemical genetics; inherited human neurologic disease; DNA and cell banking; mouse model systems; X-chromosome proteolipid protein gene.
