Seated from left: Stan Davis, secretary, UMDF; Dr. Giovanni Manfredi, assistant professor of neurology and neuroscience; and Pat Rice, UMDF officer, New York Metro Chapter. Standing from left: Tom Shubeck, UMDF officer, New York Metro Chapter; Dr. M. Flint Beal, the Anne Parrish Titzell Professor of Neurology and professor of neurology and neuroscience; and Joe Rice, UMDF officer, New York Metro Chapter.
The United Mitochondrial Disease Foundation (UMDF) presented a grant award to Giovanni Manfredi, M.D., Ph.D., assistant professor of neurology and neuroscience, during a ceremony at the Medical College on July 24. The $50,000 award will allow Dr. Manfredi to pursue his study of "Mitochondrial DNA Complementation and Recombination in Mitochondrial Disorders."
A growing body of evidence suggest that mitochondrial dysfunction might play a role in the pathogenesis of several neurodegenerative disorders. The goal of Dr. Manfredi's study in the Neurodegenerative Disorders Laboratory, led by Dr. M. Flint Beal, the Anne Parrish Titzell Professor of Neurology and professor of neurology and neuroscience, is to better understand the mechanisms of mitochondrial DNA complementation, which he hopes will contribute to the identification of novel tools for the treatment of mitochondrial diseases. Dr. Manfredi has generated a hybrid cell culture model that allows his research team to study complementation among mutated mtDNAs in a controlled system. Mutations in the mtDNA—the cause of mitochondrial diseases—are believed to typically exist in families exhibiting maternal inheritance.
Mitochondrial disease affects mostly children, many of whom die before they reach their teenage years. It is estimated that 1 in 4,000 children born in the United States will develop the disease by age 10. Unfortunately, mitochondrial disease often goes unrecognized for months, or even years. Therefore, many previously unexplained deaths in children are now being recognized during autopsy as mitochondrial disease.
UMDF provides support and information to thousands of patients, medical staff and the general public. UMDF grant awards were established in recognition of the lack of research focusing on mitochondrial disease, which has since drawn new researchers into the field of mitochondrial medicine.
Photo by Amelia Panico.