Clinical and Biochemical Genetics
Advanced Diagnostic Services, Expert Care and Leading Edge Research
Dr. Virginia Kimonis is the Division Chief for the CHOC Children’s Specialists Division of Clinical and Biochemical Genetics.
The CHOC Children’s Specialists Clinical and Biochemical Genetics Division is committed to caring for infants and children with inborn genetic diseases. Our diagnoses and treatment protocols are informed by active research conducted in our clinics and at UC Irvine Department of Genetics. Pre-natal genetic counseling is provided and co-ordinated with area OB’s and perinatologists. Multidisciplinary coordination of care is provided connecting maternal fetal medicine and neonatal intensive care.
Our physicians provide 24 hour coverage to see infants in multiple NICU’s, including at CHOC Children’s and UC Irvine Medical Center in Orange and Miller Children’s Hospital in Long Beach. We provide testing and ongoing care for a wide range of genetic diseases and disorders including dysmorphologies, inborn errors of signaling in the nervous system, autism, genetic syndromes with congenital heart defects and cardiomyopathies, metabollic disorders, and Prader-Willi Syndrome.
Advanced Research
The Division physicians are leading researchers in their respective areas of focus and are involved in ongoing leading edge research in the following areas:Mitochondrial & Molecular Medicine & Genetics, autism, channelopathies, cardiac genetics, cardiomyopathy, optic atrophy, Prader-Willi-RDCRN Natural History Study and neuromuscular disorders. Specific physician areas of research include the following:
Dr. Virginia Kimonis
In 2003, the Kimonis group identified the gene associated with Paget Disease of bone and Frontotemporal dementia. Other areas of her interest include:
- Inclusion body myopathies
- Autosomal dominant disorders
- Prader-Willi Syndrome
- Early-onset Morbid Obesity Natural History
- Genetics and Epidemiology of Craniosynostosis
Dr. Maureen Bocian
- Genetic syndrome identification
- Natural history of genetic disorders
- Genetics of autism
Dr. Jose Camacho
- Role of mitochondrial carrier family of proteins in health and disease of brain function
- Ornithine transporters
- ORNT1 Deficiency and CACT
Dr. John Gargus
- Genetic inborn errors of metabolism and signaling in nervous system
- Genetic neuronal channelopathies
- Mitochondrial energy-deficient endophenotype in autism
- Metabolite therapy in organic acidemias
- Enzyme replacement therapy in storage disease
Dr. Taosheng Huang
- TBX3-Breast cancer, Stem cell
- TBX5-Congenital cardiac defects
- Isolated disease causing genes for noncompaction of the Ventricular Myocardium
- Autosomal Dominant Optic Atrophy
Dr. Michael Zaragoza
- cardiomyopathy/heart failure and mitochondrial dysfunction due to nuclear DNA (nDNA) mutations and/or mitochondrial DNA (mtDNA) mutations
Links
Orange County American Academy of Pediatrics, California Chapter 4
- Clinical Genetics Research
Clinical and Biochemical Genetics
Physician Listing
specialties
- Allergy and Immunology
- Cardiology
- Clinical and Biochemical Genetics
- Critical Care
- Developmental/Behavioral Pediatrics
- Endocrinology
- Gastroenterology
- Hematology
- Hospitalist
- Infectious Disease
- Metabolic Disorders
- Neonatology
- Nephrology
- Neurology
- Oncology
- Ophthalmology
- Otolaryngology – Head and Neck
- Pediatric Surgery
- Pulmonology
- Rheumatology
