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.
Let's say you want to buy a new television. You probably would do some digging and compare each brand's best features and consult reviews from other consumers before making a purchase. The decision-making process isn't always as straightforward, however, when you're faced with making a choice about your healthcare. Compelling information about the benefits and harms of a medical test,
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.
Children’s Hospital researchers recently identified a network of signaling molecules that acts like a “fuse box,” regulating the effects of defective energy flow in mitochondrial respiratory chain diseases — a set of difficult-to-treat genetic-based energy disorders. Using that knowledge, they showed that a form of vitamin B3 partially restores normal functioning in cells taken from patients with 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.