Clinical and Biochemical Genetics Research

The Clinical and Biochemical Genetics Research 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:


1. Inclusion body myopathies
2. Autosomal dominant disorders
3. Prader-Willi Syndrome
4. Early-onset Morbid Obesity Natural History
5. Genetics and Epidemiology of Craniosynostosis


Dr. Maureen Bocian


1. Genetic syndrome identification
2. Natural history of genetic disorders
3. Genetics of autism


Dr. Jose Camacho


1. Role of mitochondrial carrier family of proteins in health and disease of brain function
2. Ornithine transporters
3. ORNT1 Deficiency and CACT


Dr. John Gargus


1. Genetic inborn errors of metabolism and signaling in nervous system
2. Genetic neuronal channelopathies
3. Mitochondrial energy-deficient endophenotype in autism
4. Metabolite therapy in organic acidemias
5. Enzyme replacement therapy in storage disease


Dr. Taosheng Huang


1. TBX3-Breast cancer, Stem cell
2. TBX5-Congenital cardiac defects
3. Isolated disease causing genes for noncompaction of the Ventricular Myocardium
4. Autosomal Dominant Optic Atrophy


Dr. Michael Zaragoza


1. Cardiomyopathy/heart failure and mitochondrial dysfunction due to nuclear DNA (nDNA) mutations and/or mitochondrial DNA (mtDNA) mutations