Behind the research
Motile cilia extend from the surface of specialized cells in the respiratory system, the reproductive system, the brain and the early embryo. These cilia play a critical role in clearance of fluid and particles over the surface of the cells, and the structurally related sperm flagella are required for sperm motility.
Dysfunction of cilia and flagella typically results in the pediatric syndrome primary ciliary dyskinesia (PC), which affects approximately one in 16,000 live births. Affected individuals commonly suffer from chronic respiratory infections, chronic otitis media and male infertility, with situs inversus, hydrocephalus and female infertility also associated in some patients. While the importance of cilia and flagella in human health is clear, the molecular mechanisms underlying ciliary function are still under investigation.
In Dr. Lee’s laboratory, we use both traditional and emerging genetic approaches to identify the underlying causes of PCD and its associated disorders. In particular, researchers are interested in identifying genes required for proper ciliary formation and function, as well as genetic modifiers of hydrocephalus. We are also seeking to better understand the molecular mechanisms that regulate ciliary motility using a variety of biochemical, cell biological and histopathological approaches. As PCD and its associated disorders are frequently devastating, and there is currently no cure for PCD, the goal of our research is to enable advancement of disease diagnosis and treatment and ultimately improve childhood health.