My research group studies mouse models with vestibular (inner ear) defects that may provide insights into balance disorders in humans. I am focusing on mutations that affect the structure and function of the otolithic end organs, small inner-ear structures that act as linear acceleration and gravity receptors. We have identified and characterized genes that are defective in head-tilt (het), head-slant (hslt), and neuromutagenesis facility (nmf) 333 mutant mice, each of which encodes an NADPH oxidase component. Thus, we've hypothesized that a previously unknown inner ear NADPH oxidase complex is necessary for proper development and function of the vestibular system.
I am also studying a mouse model that exhibits sex reversal, craniofacial defects and shortening of the limbs characteristic of some forms of human dwarfism. We have narrowed the genetic defect to a region on mouse Chromosome 7 and are analyzing that region of the genome with the goal of better understanding dwarfism and certain skeletal malformation syndromes in humans.