Research Overview

Virginia Kimonis is particularly interested in inherited muscle disorders that occur in combination with diseases of bone. Families with a combination of muscle disease, Paget disease of bone, and dementia (also known as IBMPFD) have been studied in the laboratory, and the gene for the disorder has been localized to chromosome 9. By identifying the causal gene (VCP, CDC48 or p97) for this disorder, the researchers are now identifying the key pathways and functions that are disrupted by the mutations they have found in the affected families. The Kimonis group is studying additional members of the original families and additional families with the combination of muscle and bone disease and are looking at the relationship between the familial disorders and the individuals' genetic makeup. They are also looking for other disorders that have various combinations of muscle, bone and brain disease, which may be related to IBMPFD and result from mutations in genes that are part of the VCP pathways. Identifying the single gene responsible for IBMPFD could have implications in many disciplines, leading to greater understanding of inclusion body myopathy, dementia and Paget disease of the bone. These findings may not only make it possible to develop better clinical treatments for families with IBMPFD, but also for those with other sporadic and hereditary diseases that share components of IBMPFD.

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  • Genetics of Musculoskeletal Disorders

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