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Gene therapy for inherited childhood blindness tested in mice; and more

Researchers from Switzerland describe the results in mice of a possible gene therapy treatment for one inherited childhood blindness-a variant of Leber congenital amaurosis-which is caused by mutations in a gene active in the retina, retinal pigment epithelium-specific protein, 65 kDa (RPE65).

Injection of normal Rpe65 into the retina of mice deficient in Rpe65 led to expression of the protein product of Rpe65 in the retina.

Electrical recordings of the activity of the eyes in these mice showed that the treatment restored retinal function to near-normal levels and prevented degeneration in one type of retinal cell-the cones-until at least four months, an age at which almost all cones have degenerated in untreated Rpe65-deficient mice.

Citation: Bemelmans AP, Kostic C, Crippa SV, Hauswirth WW, Lem J, et al. (2006) Lentiviral gene transfer of Rpe65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis. PLoS Med 3(10): e347.

Andrew Hyde | alfa
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