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Dr. Kimonis is a Clinical Geneticist-Scientist with a strong interest in the genetics of neuromuscular diseases. Dr. Kimonis's laboratory focuses on the genetic causes of muscle disease. 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 VCP knock-in mouse model is an excellent model of the human disease and is being utilized for preclinical experiments in the lab for potential therapy. Dr. Kimonis has established UC Irvine as a RDRCN (Rare Diseases Clinical Research Network) site for the Natural History study of Prader Willi and Morbid Obesity syndrome. She is also involved in other clinical projects.
Neuromuscular disorders, inclusion body myopathy, Paget disease, frontotemporal dementia, Prader Willi, morbid obesity, craniosynostosis