Dr. Changrui P. Xiao

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 establishedNational Organization for Rare Disorders (NORD) Rare Disease Center of Excellence, a joint program of UCI Health and Children's Hospital of Orange County (CHOC). Dr. Kimonis is highly rated in 17 conditions, according to our data. Her clinical expertise encompasses Prader-Willi Syndrome, Pompe Disease, Fabry Disease, Danon Disease, and Hormone Replacement Therapy (HRT). Dr. Kimonis is board certified in American Board Of Medical Genetics And Genomics - Clinical Genetics And Genomics.

Dr. Tahseen Mozaffar is a Professor of Neurology, Orthopaedic Surgery and Pathology and Laboratory Medicine at University of California, Irvine. He is the Director of the UC Irvine-MDA ALS and Neuromuscular Center and the Director of the Division of Neuromuscular Diseases. Dr. Mozaffar serves as chair of one of the biomedical committees and the institutional liaison for Trials Innovation Hub for the Center for Translational Sciences Award (CTSA) at University of California, Irvine. He is the Principal Investigator for UCI-NEXT, the NeuroNEXT award to the University of California, Irvine, one of 25 such NeuroNEXT sites funded by the NINDS/NIH.. Dr. Mozaffar is highly rated in 32 conditions, according to our data. His clinical expertise encompasses Pompe Disease, Inclusion Body Myositis, Myositis, Limb-Girdle Muscular Dystrophy, and Thymectomy. Dr. Mozaffar is board certified in Board Certification In Neurology, 1996-2026, Board Certification In Neuromuscular Medicine, 2008-2028, and Board Certification In Clinical Neuromuscular Pathology, 2015 - 2025. Dr. Mozaffar is currently accepting new patients.

Matthew Deardorff is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Los Angeles, California. Dr. Deardorff is highly rated in 27 conditions, according to our data. His clinical expertise encompasses Cornelia De Lange Syndrome, Coffin-Siris Syndrome, Mosaicism, and Beckwith-Wiedemann Syndrome.