Dr. Falk is a Clinical Geneticist who serves as executive director of the Mitochondrial Medicine Frontier Program. Her translational research lab investigates the causes and global metabolic consequences of mitochondrial disease, as well as targeted therapies, in C. elegans, zebrafish, mouse, and human tissue models of genetic-based respiratory chain dysfunction.
New preclinical findings from extensive cell and animal studies suggest that a drug already used for a rare kidney disease could benefit patients with some mitochondrial disorders—complex conditions with severe energy deficiency for which no proven effective treatments exist. Future clinical research is needed to explore whether the drug, cysteamine bitartrate, will meaningfully benefit patients.
Synapses were firing throughout the conference room in the Colket Translational Research Building as attendees at the 2017 Research Institute Scientific Symposium held May 2 learned about their colleagues' intriguing research endeavors. The four sessions' themes aligned smartly with the Research Institute's strategic planning process and overall mission of the Children's Hospital of Philadelphia.
By using existing human drugs to improve metabolism and restore shortened lifespans in microscopic worms, scientists have set the stage for human clinical trials of possible innovative therapies for mitochondrial disease.
The Mitochondrial Medicine Research Laboratory investigates the genetic etiologies, pathophysiologic mechanisms, and therapeutic targets of mitochondrial disease. The lab applies state-of-the-art technologies and approaches in diverse animals (C. elegans worms, D. rerio zebrafish, M. musculus mice), human cells, and patients to cross-validate key translational insights that will enable precision diagnosis, monitoring, and therapeutic management of primary and secondary mitochondrial diseases.