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Virginia E. Kimonis

Virginia E. Kimonis, MD


Medical Genetics and Genomics, Clinical Genetics and Genomics, General Pediatrics

Clinical Interests

dysmorphology, fetal dysmorphology, frontotemporal dementia, inclusion body myopathy, metabolic genetics, neuromuscular genetics, Paget disease, Pompe disease, Prader-Willi syndrome, rare genetic syndromes

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  • American Board of Medical Genetics and Genomics, Clinical Biochemical Genetics
  • American Board of Medical Genetics and Genomics, Clinical Genetics and Genomics

  • English
  • Greek
  • Hindi
Medical School
University of Southampton School of Medicine
St. Mary's Hospital (United Kingdom)Medicine and Surgery
Massachusetts General HospitalPediatrics
National Institutes of HealthClinical and Biochemical Genetics
Professional Positions
  • Professor — Division of Genetics and Metabolism, Department of Pediatrics, UCI School of Medicine
Awards and Recognition
  • Physicians of Excellence, Orange County Medical Association, 2012-2018, 2020-2023
More Information

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). 

She sees patients at the UCI Health Women's Healthcare Center & Center for Fetal Evaluation, UCI Medical Center's Pavilion 1 and the UCI Health ALS & Neuromuscular Center.

Academic Profile

View this physician's faculty profile ›

Speakers Bureau Topics

  • Cardiovascular Genetics
  • Chromosomal Disorders
  • Dysmorphology
  • Fetal Dysmorphology
  • Genetic Syndromes
  • Genetics for the Dermatologist
  • Genetics for the Neurologist
  • Genetics for the Pediatrician
  • Genetics for the Primary Care Physician
  • Genetics for the Urologist
  • Genetics of Deafness
  • Genetics, Latest Advances
  • Imprinting Disorders
  • Neuromuscular Genetics
  • Prenatal Genetics

UCI Health ALS & Neuromuscular Center
200 S. Manchester Ave., Suite 110
Orange, CA 92868
Phone: 714-456-2332
Fax: 714-456-5997
UCI Health Pavilion 1
UCI Medical Center
101 The City Drive South, Building 30
Orange, CA 92868
Phone: 714-456-7720
UCI Health Women's Healthcare Center and Center for Fetal Evaluation
200 S. Manchester Ave., Suite 600
Orange, CA 92868
Phone: 714-456-2911