One area of focus for our research team is to investigate the genetic basis of disease in neonates. With the evolution of neonatal health care to address major physiologic contributors to disease, new opportunities are emerging to investigate the influence of genetic mechanisms on neonatal health and to apply new molecular methods in the diagnosis of neonatal disease and its markers. For example, one specific area of interest is in the contribution of infection to premature birth and chronic lung disease of prematurity. We are exploring Ureaplasma urealyticum, a known genitourinary pathogen in adults and we are investigating its role in chronic lung disease of prematurity (CLD). We are also interested in the role that the innate immune system may play as a contributor to the risk of infection in the premature infant.
A second major focus has been in the role of dystrophin and its associated proteins in the non-muscle manifestations of Duchenne and other inherited muscular dystrophies. Our particular emphasis has been on neurosensory physiology of both vision and hearing. As an outcome of this work, we have shown that dystrophin plays a key role in light perception and thus, night vision. We are currently applying pharmacogenetic approaches to the manipulation of gene expression and its ability to alter and/or enhance night vision. Many populations are at risk for progressive or stationary disorders of night vision making this an important contributor to public health needs. We are particularly interested in how this discovery may be applied to individuals with retinopathy of prematurity, inherited retinopathies, and in gender-based alterations in light-perception that may be hormonally mediated.
Cellular communications key to life and disease are mediated by a cascade of signal transduction machinery involving cell surface receptor, cellular signaling molecules and ion-channels. Our lab is interested in studying how developmental changes that alter this signaling cascade leads to the complications associated with premature birth. We are especially interested in the role of birth hormone receptor signaling in short term and long term effect on cellular function. Using various state of the art technologies like physiology (Electroretinogram and patch-clamp), biological imaging (Live and fixed fluorescence) and Molecular and Biochemical techniques we are interested in the function of potassium channel macromolecular complex in our ability to see.