Virginia E. Kimonis, MD

Dr. Virginia E. Kimonis is a board-certified UCI Health clinician-scientist who specializes in the diagnosis and treatment of children and adults with neuromuscular, neurodegenerative, dysmorphia and other complex disorders.

Her clinical interests include inclusion body myopathy, Paget disease, Pompe disease, frontotemporal dementia, Prader Willi syndrome, morbid obesity and craniosynostosis.

Kimonis earned her medical degree at the University of Southampton Medical School in Southampton, England. She completed a residency in pediatrics at Massachusetts General Hospital in Boston, followed by a fellowship in clinical and biochemical genetics at the National Institutes of Health (NIH) and Children's National Hospital in Washington, D.C.

The author or co-author of more than 175 peer-reviewed publications in prestigious journals, Kimonis has focused her research primarily on inherited muscle disorders, lysosomal storage diseases, Prader Willi and several other rare disorders. She developed the Lysosomal Disease Program, established a registry study among a large cohort of patients with Pompe disease, and conducted a study of resistance training for axial and respiratory muscles in Pompe disease as an adjunct to enzyme replacement treatment.

She also discovered multisystem proteinopathy, a new disease type associated with mutations in the VCP gene that overlaps with Pompe disease. She has received research funding from numerous agencies, including NIH, the Muscular Dystrophy Association, the Paget Foundation and other rare disease foundations.

Kimonis also is a lead investigator with the newly established National Organization for Rare Disorders (NORD) Rare Disease Center of Excellence, a joint program of UCI Health and Children's Hospital of Orange County (CHOC).

Services:

• Pediatrics
• Genetic Testing

Clinical Interests:

dysmorphology, fetal dysmorphology, metabolic genetics, neuromuscular genetics, Prader-Willi syndrome, rare genetic syndromes