Dr. Virginia E. Kimonis is a Professor in the Department of Pediatrics, Division of Genetic and Genomic Medicine, and in Neurology at the University of California, Irvine (UCI) School of Medicine. She is a board-certified clinical geneticist and clinician-scientist specializing in rare genetic and metabolic disorders. Her research focuses on inherited muscle diseases, lysosomal storage disorders (notably Pompe disease), Prader-Willi syndrome, and multisystem proteinopathy. She developed the Lysosomal Disease Program at UCI and established a large patient registry for Pompe disease. Her work includes clinical trials on resistance training as an adjunct to enzyme replacement therapy. Inherited neuromuscular disorders Lysosomal storage diseases Prader-Willi and imprinting disorders Dysmorphology and fetal genetics VCP-related multisystem proteinopathy Rare disease genomics Her recent publications reflect a strong focus on genotype-phenotype correlations, clinical management of rare diseases, and translational research. Themes include the role of VCP mutations in neurodegeneration, long-term outcomes in Pompe disease, and prenatal diagnosis of genetic syndromes. Awarded repeatedly as a Physician of Excellence by the Orange County Medical Association (2012–2018, 2020–2023), she is also a lead investigator for the NORD Rare Disease Center of Excellence, a UCI-CHOC collaboration. She has received funding from NIH, Muscular Dystrophy Association, Paget Foundation, and other rare disease organizations. Dr. Kimonis mentors trainees through her research programs and clinical genetics training. She is actively involved in national outreach, serving on speaker bureaus for topics including cardiovascular genetics, neuromuscular genetics, and genetics for primary care providers. She also contributes to patient education and professional development in clinical genetics. She leads clinical and research teams focused on rare disease diagnosis and management, including the ALS & Neuromuscular Center and the Lysosomal Disease Program at UCI Health.
