The Mitochondria – Epigenetics and Genetics Program (Mito-EpiGen) is a multidisciplinary research program dedicated to find a cure for pediatric inherited mitochondrial diseases. These mitochondrial diseases are due to mutations in the nuclear or mitochondrial genome affecting the oxidative phosphorylation (OXPHOS) system responsible for ATP synthesis. Thus, patients affected with a mitochondrial disease suffer from chronic energy deficit and exhibit a constellation of complex neurological and multisystem phenotypic symptoms. These diseases can manifest at any age, ranging from the neonatal phase to adulthood with variable severity.
The Mito-EpiGen Program, created at the George Washington University School of Medicine and Health Sciences, is under the directorship of Dr. Anne Chiaramello and has two interlinked components to advance biomedical research in mitochondrial diseases:
- Translational research in the laboratory of Dr. Anne Chiaramello at the George Washington University School of Medicine and Health Sciences. Her translational studies are currently funded by the National Institute of Neurological Disorders and Stroke (NINDS) of the National Institute of Health. Dr. Martine Uittenbogaard is the Deputy Scientific Director and specialized in mitochondrial functional assays. She has established protocols to derive fibroblasts from skin biopsies performed on patients to screen pharmacological molecules with therapeutic potential. She has been involved since the inception of the Mito-EpiGen Program.
- Clinical research under the auspices of Children’s National Medical Center with Dr. Andrea Gropman. Dr. Gropman, who is the Chief of the Division of Neurogenetics and Developmental Pediatrics at Children’s National Medical Center, is a pediatric neurologist specialized in mitochondrial diseases. She has extensive experience diagnosing and treating children with suspected mitochondrial disorders. Dr. Gropman, who is the Deputy Clinical Director of the Mito-EpiGen Program, has been involved since the creation of the program.
The Mito-EpiGen Program focuses on an array of inherited mitochondrial diseases, such as Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like episodes (MELAS), Maternally Inherited Leigh Syndrome (MILS), Leber’s Hereditary Optic Neuropathy (LHON), and PolG-related mitochondrial diseases. Patients are being recruited to participate in our pre-clinical studies (see Link on Patient Recruitment Info).
The Mito-EpiGen Program entails an active collaboration between basic researchers and clinicians to design novel therapeutic approaches to mitigate the chronic energy deficit in patients. Dr. Gropman performs skin biopsies on patients who have been genetically diagnosed mitochondrial disorder. The Chiaramello laboratory then derives fibroblasts from the skin biopsy to test an array of small molecules with therapeutic potential aimed at reducing the load of diseased mitochondria and alleviating the clinical symptoms in patients.