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Dr. Kimonis first discovered Valosin Containing Protein (VCP)  Inclusion body disease in 2000 and her lab has been at the forefront in translational research for this. The causative gene was identified in the Kimonis lab in 2003 as VCP or p97 a member of the AAA-ATPase (ATPases Associated with a variety of cellular Activities) superfamily. This protein is involved with several important cellular mechanisms and an essential component of the autophagy and ubiquitin-proteasome pathway-mediated quality control. TAR DNA binding protein 43 (TDP-43) is the major disease protein in the inclusions of VCP disease, frontotemporal lobar degeneration with ubiquitin-positive inclusions, and in amyotropic lateral sclerosis

Recently there has been a renewed interest in using VCP inhibitors therapeutically since studies have shown that inhibitors were able to rescue disease phenotypes of mitochondrial dysfunction and cellular death in a fly model of IBMPFD disease mutations. We are also studying antisense oligonucleotides in reducing the gain of function resulting from the VCP mutations. 

Dr. Kimonia has recruited a large number of patients with VCP disease over the past 22 years and has performed genotype/phenotype and natural history studies which are very important in the design of several treatment trials. Currently, there are no approved treatments for the muscle and dementia component of the disease. The results from our laboratory and clinical studies will help with obtaining approval for clinical trials of novel interventions for patients with VCP disease.

Inclusion body myopathy associated with HSPB8 gene mutations has recently been linked with mutations in a novel gene Heat Shock Protein B8 (HSPB8). This gene has previously been associated with Charcot Marie Tooth. Heat shock proteins are a family of proteins that respond to environmental and physiological stress. HSPB8 is part of the chaperone-assisted selective autophagy complex, a vital part of the cellular protein quality control system in mechanically strained cells and tissues, such as skeletal muscle, heart, and lung. The Kimonis lab has developed a CRISPR mouse model and iPSCs which were transformed to myoblasts for our translational studies. We have used these models to develop novel treatments using colchicine, arimoclomol, and gene targetting technology. 

Dr. Kimonis’s lab moves treatments from the bench to the bedside.


We are scientists and doctors studying genetic causes, natural history,  and new treatments for rare diseases such as muscle diseases, lysosomal storage diseases, and Prader-Willi Syndrome. Dr. Virginia E. Kimonis is particularly interested in inherited muscle disorders that occur in combination with diseases of bone and/or frontotemporal dementia.

If you or a member of your family has one of the disorders that we are studying and you have questions, comments, or would like to participate in a study, please contact us. We are happy to discuss what we do in detail or explain any concepts that remain unclear.

If you are a physician or genetic counselor who would like to refer a family to our study, please contact us.

Current studies include: