Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel.

@article{Banin2010MolecularAM,
  title={Molecular anthropology meets genetic medicine to treat blindness in the North African Jewish population: human gene therapy initiated in Israel.},
  author={Eyal Banin and Dikla Bandah-Rozenfeld and Alexey Obolensky and Artur V. Cideciyan and Tom{\'a}s S. Alem{\'a}n and Devora Marks-Ohana and Malka Sela and Sanford L. Boye and Alexander M Sumaroka and Alejandro J. Roman and Sharon B. Schwartz and William W. Hauswirth and Samuel G. Jacobson and Itzhak Hemo and Dror Sharon},
  journal={Human gene therapy},
  year={2010},
  volume={21 12},
  pages={1749-57}
}
The history of the North African Jewish community is ancient and complicated with a number of immigration waves and persecutions dramatically affecting its population size. A decade-long process in Israel of clinical-molecular screening of North African Jews with incurable autosomal recessive blindness led to the identification of a homozygous splicing mutation (c.95-2A > T; IVS2-2A > T) in RPE65, the gene encoding the isomerase that catalyzes a key step in the retinoid-visual cycle, in… CONTINUE READING
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