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Primary Cilia—the Antenna of the Cell: From Biogenesis to Disease

Monday, October 24, 2011 — Concurrent Symposia Session I

2:00 p.m. – 4:00 p.m.

Balcony C


  • Anand Swaroop, NEI


The microtubule-based primary cilium, an extension of the plasma membrane, affords cells the ability to interact with and respond to their extracellular environment. Cilia in different tissues serve unique functions based on the primary role of that cell type; disruptions in cilia formation lead to cell death and/or organ dysfunction. As nearly all mammalian cells contain cilia, generalized cilia dysfunction affects many organs, including brain, lung, and primary sensory organs such as the retina, cochlea, and olfactory epithelium. More than 1,000 genes are involved in cilia formation and function; thus, genetic mutations in many genes cause an overlapping spectrum of syndromic ciliopathies such as Leber congenital amaurosis, Bardet-Biedl and Joubert Syndromes. In the past several years, mutations linked to ciliopathies have been identified, providing the opportunity to examine the structural and functional basis of ciliogenesis and cell dysfunction. Recent insights from these studies can help design new treatments for human ciliopathies.

Overview of Clinical Features of Disorders of the Primary Cilia
Meral Gunay-Aygun, NHGRI

Anatomic and Functional CNS Developmental Abnormalities in Bardet-Biedl Syndrome
Leslie Biesecker, NHGRI

A Periciliary Ridge Complex in Mammalian Photoreceptors
Tiansen Li, NEI

Reciprocal Rescue of Sensory Cell Cilia Defects by Cep290 and Bbs6 (Mkks) Alleles *FARE Award Winner
Helen May-Simera, NIDCD

Primary Cilia in the Auditory System: Regulation of Hair Cell Development and Planar Cell Polarity
Matthew Kelley, NIDCD

Planar Cell Polarity Breaks Bilateral Symmetry by Controlling Ciliary Positioning
Yingzi Yang, NHGRI

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