Tissue-specific Roles of CEP290 in Photoreceptor Development and Ciliogenesis

February 6, 2013 -
11:45am to 1:00pm

The Fox Center for Vision Restoration organizes an exciting lecture series focusing on ocular regeneration and new therapies.

Distinguished national and international speakers present their innovative and multidisciplinary approaches to finding cures for vision impairment. The objective of this lecture series is to accelerate research through knowledge sharing, partnership building and out of the box thinking.

Tissue-specific Roles of CEP290 in Photoreceptor Development and Ciliogenesis

Rivka Rachel Rivka A. Rachel, MD, PhD
Staff Scientist
National Eye Institute
National Institutes of Health

Dr. Rivka Rachel is a Staff Scientist at the National Eye Institute, National Institutes of Health. Prior to this she was an Independent Distributor at STEMTech Health Sciences, Inc. and a Postdoc Fellow/Staff Scientist at the National Cancer Institute.

Dr. Rachel received her PhD in Developmental Neuroscience from Columbia University and her MD from the Medical College of Wisconsin, with clinical training in neurosurgery. Her postdoctoral training was in complex genetics of animal models of human disease. Her specialties include biomedical research, scientific manuscript editing, and technical/content writing.

Presentation abstract

Mutations in the centrosomal protein CEP290 are inherited causes of both Leber congentical amaurosis, retinitis pigmentosa and syndromic ciliopathies. CEP290 is unique among cilia-related genes in being associated with all major multigenic ciliopathies, suggesting a central and pleiotropic role in ciliogenesis and cilia function. Localization of Cep290 to the ciliary transition zone between photoreceptor inner and outer segments further positions this protein as a key regulator of cilia biogenesis and function. We sought to define the function of CEP290 by deleting the gene in mouse, creating a severe hypomorphic allele of Cep290, and studying the effects of loss of function on ciliogenesis and cilia function in neural tissues. We find that loss of Cep290 in mouse results in tissue-specific and dosage-sensitive defects in ciliogenesis. Allele-specific effects are also present, some of which are rescued by loss of another cilia-related protein Mkks. These results provide insight into the function of Cep290 in vision, and suggest a novel approach for therapy based on modifying levels of interacting proteins.

Location and Address

Eye and Ear Boardroom, 5th floor, Eye and Ear Institute
203 Lothrop Street, Pittsburgh PA 15213