Research in the Lee Lab is devoted to understanding the genetic and molecular causes of the pediatric disorder primary ciliary dyskinesia (PCD). PCD affects approximately 1 in 16,000 newborn children worldwide and is commonly characterized by chronic sinusitis (sinus infection), otitis media (ear infection), male infertility, situs inversus (a reversal of left-right asymmetry), and hydrocephalus (“water on the brain”). This syndrome results from dysfunction of motile cilia and flagella. Motile cilia extend from the surface of respiratory epithelial cells, ependymal cells lining the ventricular surface of the brain, and nodal cells in the early embryo, and they are required for clearance of fluid and particles over the surface of the cells. In addition, the structurally related sperm flagella are required for sperm motility. While the importance of cilia and flagella in human health is clear, the molecular mechanisms underlying ciliary function are still under investigation.
In the lab, we use both traditional and emerging genetic approaches to identify the underlying causes of PCD and its associated disorders. We are also interested in functional characterization of the proteins encoded by these genes. Using a variety of genetic, biochemical, cell biological and histopathological approaches, we are striving to better understand the molecular mechanisms that regulate ciliary function. Identifying the genetic and molecular causes of PCD will ultimately lead to improved methods of diagnosis and treatment of this syndrome and its associated disorders.
Contact Information for Lee Lab:
Lance Lee, PhD