Cilia -- Cilia Researchers at Yale
About Cilia	English (USA)
In recent years, an increasing number of human diseases (ex. Nephronophthisis, Jeune’s Asphyxiating Thoracic Dystrophy, COACH) and syndromes (ex. Joubert, Bardet-Biedl, Oral-Facial-Digital type 1, Meckel) have been linked to abnormal development, morphology, or function of a small cellular organelle called the cilium. Ciliopathies vary in severity but encompass a variety of defects including neonatal lethality, infertility, heterotaxy, obesity, mental retardation, polydactyly, cyst formation and skeletal aberrations. Given the breadth and severity of cilia-associated defects, elucidating the genetics of ciliopathies will be critical for diagnostics while defining their molecular basis is essential to understanding how cilia impact human development and health. Cilia are found on almost all cells in vertebrate embryos and, although previously overlooked, they have recently emerged as key regulators of animal development and disease. Cilia are required for conserved signaling pathways across tissues but also play distinct roles in specific organs. Despite the importance of cilia for human health it is not known which genes are essential for cilia formation and function nor how cilia function differently in distinct tissues. To see the collection of prior postings to the list, visit the Cilia Archives. (The current archive is only available to the list members.)
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