Current research interests are all related to the application of genetic concepts and methodologies to the elucidation of the pathobiology of aging in human subjects and transgenic mice. There are three broad areas of concentration. 1) The genetic basis for susceptibility and resistance to dementias of the Alzheimer type. The major current initiative is the elucidation of the role of a multifunctional adaptor protein, FE65, in the modulation of the beta amyloid precursor protein metabolism and other neural functions. 2) The nature of gene action in the pathogenesis of Werner syndrome, a rare autosomal recessive with striking progeroid features. Clinical pathological and genetic studies are expedited by the establishment of an International Registry of Werner Syndrome. There is a search for mutations responsible for “atypical” forms of the Werner syndrome, one subset of which has recently been shown to be caused by mutations at LaminA/C in a domain distinct from that associated with the Hutchinson-Gilford syndrome. 3) Together with several colleagues at the University of Washington, we are investigating DNA nuclear and mitochondrial damage associated with aging in both human tissues and in transgenic mice.

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