Restoring normal cell function in Leber congenital amaurosis by adding the CEP290 gene

Lentiviral delivery of full-length CEP290 successfully rescued ciliogenesis defects in cells from patients with CEP290-associated Leber congenital amaurosis.

• Mutations in CEP290 are the leading cause of Leber congenital amaurosis, a severe inherited retinal disease.
• Cells derived from patients with CEP290-associated LCA exhibit fewer cilia and shorter cilia compared to unaffected controls.
• Transduction of patient-specific cells with lentiviral vectors carrying CEP290 resulted in expression of the gene.
• The lentiviral vector improved ciliogenesis in patient-derived fibroblast cultures, indicating a potential for gene replacement therapy.

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