Respiratory Chain Disease | CHOP Research Institute
 

Respiratory Chain 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.

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.

E-mail:
falkm [at] chop.edu
Published on
Jul 30, 2013
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.