The Chiaramello Lab and Mito-EpiGen Program

The Chiaramello laboratory is housed within the Department of Anatomy and Cell Biology at the George Washington University (GW) School of Medicine and Health Sciences in Washington, D.C. We founded the Mitochondria – Epigenetics and Genetics Program (Mito-EpiGen) housed at the GW School of Medicine and Health Sciences. This multidisciplinary program is dedicated to find a cure for two maternally inherited mitochondrial diseases, MELAS and LHON-Plus. They are caused by pathogenic variants in the mitochondrial genome affecting the oxidative phosphorylation pathway responsible for ATP synthesis. Patients suffer from chronic energy deficit and exhibit a constellation of complex neurological and multisystemic symptoms, making their diagnosis challenging. The Mito-EpiGen Program has two interlinked components to advance innovative biomedical research in mitochondrial diseases: 1) Translational and pre-clinical research in the laboratory of Dr. Anne Chiaramello, funded by the Department of Defense and the National Center for Advancing Translational Sciences of the National Institute of Health. Dr. Martine Uittenbogaard is the Deputy Scientific Director specialized in mitochondrial functional investigations and mitochondrial genetics. She has established protocols to derive fibroblasts from patient’s skin biopsy for determining the patient’s mitochondrial signature and to screen pharmacological molecules with therapeutic potential for rescuing the mitochondrial phenotype caused by MELAS or LHON-Plus. 2) Clinical research is performed in collaboration with Dr. Andrea Gropman, M.D., at Children’s National. Dr. Gropman is the Deputy Clinical Director of the Mito-EpiGen Program and the Chief Division of Neurogenetics and Developmental Pediatrics. As a geneticist and pediatric neurologist specialized in mitochondrial diseases, she has extensive experience in treating patients with suspected mitochondrial disorders.