Expertise
Molecular biology of mitochondria, mitochondrial genetics in human diseases, molecular pathology of neurodegenerative diseases.
My independent group at the University of Miami was established in 1993 and one of its main focus in the last decade has been the study of mitochondrial defects neurodegenerative processes. We have used patients cells and genetically modified mice to create models of mitochondrial disorders associated with defects in either nuclear of mitochondrial DNA. We are also focused on developing genetic treatments to mitochondrial DNA disorders, namely using mitochondria-targeted nucleases to eliminatyed mutated mtDNA.
Our lab works on the molecular basis of mitochondrial disorders which are caused by defects in the cellular energy production system. Mitochondria contain their own DNA (mtDNA) and mutations in either mtDNA or nuclear DNA can disrupt the ATP synthesis machinery and trigger a number of pathways that can lead to disease. Besides studying the function of mitochondrial proteins affecting energy production, we also study the role of mitochondrial function in aging and develop pharmacological and genetic approaches to treat mitochondrial diseases.
Our lab studies the molecular basis of mitochondrial defects in metabolic and neurodegenerative diseases and in normal aging, using genetically-modified mouse models. Three major funded projects are: 1) Development of genetic therapies for mitochondrial diseases. 2) Development of animal models to study the pathogenesis of mitochondrial disorders. 3) Compensating for a defect in oxidative phosphorylation by increasing mitochondrial biogenesis.