Cilia and Human Diseases: Insights from the OFD Type I Syndrome

Cilia are microtubule-based organelles protruding from the cell surface of almost all mammalian cells and exert diverse motility and sensory function within the cell. Work from different groups has revealed that cilia have crucial roles in cell signalling pathways and in maintaining cellular homeostasis. However, only recently mutations in proteins that localize to the basal body and axoneme of primary cilia were causally related to human diseases. Collectively, these human syndromes are called “ciliopathies”, disorders defined by unique clinical criteria, but which present many overlapping phenotypes such as retinal degeneration, polydactyly, situs inversus, mental retardation and CNS malformations, encephalocele and cysts in the kidney, liver and pancreas. Thousands of proteins potentially involved in ciliary function have been identified. However, much remains to be determined on the biology and functions of this complex organelle of growing biomedical importance. Our laboratory aims to gain further insight on the molecular mechanisms and pathogenesis of ciliopathies, in particular OFD Type I Syndrome.

The "Total Award" amount indicated for this project represents the share of the funding of the Telethon Foundation for research by the Tigem institute from July 2016 until last budget year, calculated based on the size of the research group.