Faculty Profile: Kimonis, Virginia

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Faculty Information Lab Information (Packet Type, Course Title, & Department) Location
Kimonis, Virginia
Lab Contact:
Virginia Kimonis
(714) 456-5791 or (949) 824-0571
Department: SOM - Pediatrics
Hewitt Hall, Irvine and Tower Bldg, Orange

Research Description

Dr. Virginia Kimonis is the new chief of the Division of Genetics and Metabolism in the Department of Pediatrics at UCI. While involved in many aspects of clinical genetics and clinical research (multicenter clinical NIH studies involving natural history and genotype- phenotype studies in Prader-Willi and Craniosynostosis syndromes), she has an international reputation for her clinical and laboratory research work in inherited muscle diseases that occur in combination with diseases of bone and/or dementia (also known as IBMPFD) Her group localized the gene for the disorder to chromosome 9, identified the causal gene as VCP (CDC48 or p97) and are now identifying the key pathways and functions that are disrupted by the mutations they have found in the affected families. They are also developing a knock-in animal model of the disorder and are working on developing better clinical evaluations, diagnostic testing and treatments for families with IBMPFD, but also for those with other sporadic and hereditary diseases that share components of IBMPFD.