Gene therapy for Leber’s Congenital Amaurosis due to CEP290 Mutations

One of the most common forms of Leber’s Congenital Amaurosis (LCA) is caused by mutations in a gene called Centrosomal Protein 290kD (CEP290). CEP290 is a protein associated with cilia, structures that are present throughout the body, including photoreceptors, which are modified cilia. Depending on the nature of the CEP290 mutation, individuals can also suffer disease in other tissues. LCA-CEP290 is an attractive target for gene therapy because of its relative prevalence, however there are technical challenges to delivering the wild type gene due to its large size. Our team has been studying the biology of this gene / protein1 with the goal of using this information to develop gene-based approaches for treatment.

References

  1. Drivas TG, Holzbaur ELF, Bennett J, Journal of Clinical Invest. 123(10):4525-4539 (2013), Disruption of novel CEP290 microtubule/membrane binding domains causes retinal degeneration.