Ciliopathies: Common Themes in Diverse Genetic Disorders
Sponsored by APS Renal Section
Cell Physiology Track

The primary cilium is a microtubule-based organelle that protrudes from the surface of most vertebrate cells and has been implicated in diverse biological functions, including chemo-, mechano-, and photosensation. Defects in cilia are associated with a wide range of human diseases, including polycystic kidney disease, nephronophthisis, some forms of retinal degeneration, hydrocephalus and obesity. Emerging evidence suggests that these seemingly unrelated diseases are linked by molecular defects in common signal transduction and morphogenetic pathways. It is anticipated that the molecular and functional identification of these pathways will yield diagnostic and therapeutic value.