Roles of the cilium, a sensory organelle, in health and disease

Cilia are slender appendages that protrude from most cells and tissues in humans. The motile forms produce whip-like motions, while the non-motile (known as “primary”) forms act as antennae, detecting chemical and physical changes in their environment. Both forms of cilia are critical to human health. For example, motile cilia propel sperm in males, and move debris in respiratory airways. Primary cilia are implicated in sensory processes such as vision, sense of smell and hearing. Defects in the forms or functions of cilia can cause a wide range of human ailments, including kidney and heart disease, obesity and diabetes, and sensory impairments such as blindness. Using bioinformatics, genetics, cell biology, biochemistry and genomics approaches, Dr. Michel Leroux is studying previously unknown components of cilia and characterizing them in the nematode C. Elegans and in human tissue culture cells. He is also working to identifying genes associated with the many ciliary disorders in humans, including some associated with obesity and cystic kidney disorders. By providing fundamental insights into the form and functions of cilia, Dr. Leroux’s studies may uncover new potential targets for therapy in a wide range of human diseases.