Cilia and human diseases: insights from the OFD type I syndrome

Cilia are hair-like structures located on the membrane of almost all mammalian cells. Studies generated from different laboratories demonstrated that these structures have important roles in transferring information from the space surrounding the cell to the inside of the cell. Genetic studies have established that mutations in genes important for formation and function of cilia are associated with a number of genetic diseases characterized by the presence of common clinical features including renal cystic disease, and brain and skeletal abnormalities. Our laboratory has been involved in the past few years in the study of one of these genetic diseases. We now propose to globally study the genes necessary for cilia formation to better understand the function of cilia. We believe that this will be important toward the identification of novel pharmacological approaches for this group of disorders.