title: Cilia and Diseases.
abstract: In recent decades, cilia have moved from relative obscurity to a position of importance for understanding multiple complex human diseases. Now termed the ciliopathies, these diseases inflict devastating effects on millions of people worldwide. In this review, written primarily for teachers and students who may not yet be aware of the recent exciting developments in this field, we provide a general overview of our current understanding of cilia and human disease. We start with an introduction to cilia structure and assembly and indicate where they are found in the human body. We then discuss the clinical features of selected ciliopathies, with an emphasis on primary ciliary dyskinesia, polycystic kidney disease, and retinal degeneration. The history of ciliopathy research involves a fascinating interplay between basic and clinical sciences, highlighted in a timeline. Finally, we summarize the relative strengths of individual model organisms for ciliopathy research; many of these are suitable for classroom use.
authors.affiliation: George B. Witman ( george.witman@umassmed.edu ) is a professor of cell and developmental biology and the George F. Booth Chair in Basic Sciences at the University of Massachusetts Medical School. Jason M. Brown trained as a postdoctoral fellow with GBW and is an assistant professor of biology at Salem State University, in Salem, Massachusetts.
authors.forename: Jason M
authors.initials: JM
authors.lastname: Brown
authors.affiliation: George B. Witman ( george.witman@umassmed.edu ) is a professor of cell and developmental biology and the George F. Booth Chair in Basic Sciences at the University of Massachusetts Medical School. Jason M. Brown trained as a postdoctoral fellow with GBW and is an assistant professor of biology at Salem State University, in Salem, Massachusetts.
authors.forename: George B
authors.initials: GB
authors.lastname: Witman
keywords: blindness; cilia; ciliopathies; cystic kidney disease; flagella