Welcome message from Dr. Virginia Kimonis

The Kimonis Laboratory is a molecular genetics lab within the Division of Genetics & Genomic Medicine at UC Irvine School of Medicine Department of Pediatrics.

Dr. Kimonis discovered an important inherited muscle disorder that occured in combination with Paget disease of the bone and early onset of frontotemporal dementia.

We are scientists and doctors at UC Irvine studying genetic causes of muscle disease, the natural history of Prader-Willi Syndrome and the characteristics of other rare genetic syndromes.

Families with a combination of muscle disease and Paget disease of bone have been studied in the laboratory and the gene has been localized identified as VCP (valosin-containing protein). Dr. Kimonis has made a mouse of the desease, stem cells and is now working on treatments for this disease.

Our current topics of research are:

• Inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia and Amyotrophic lateral sclerosis (ALS or Lou Gehrig's Disease)
• Prader-Willi syndrome and early onset morbid obesity 
• Lysosomal storage disorders
• Genetics of Angelmans, Mitochondrial, other rare diseases

We are happy to discuss what we do in detail or explain any concepts that remain unclear.

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 our study, please contact us.

If you are a physician or genetic counselor who would like to refer a family to our study, we would like to hear from you.

Thank you for visiting. If you have any comments or questions for us, or just want to say hello, please do not hesitate to contact us.