Newly Improved Method and Composition for Treating Genetically Linked Diseases of the Eye

X-linked retinoschisis (XLRS) is an inherited ocular disease caused by mutations in the RS1 gene which results in the abnormal splitting of the retinal layers. It is the leading cause of macular degeneration in males, and approximately 1:15,000 individuals in the US are affected by this condition.   XLRS causes progressive vision loss, and affected individuals are unable to perform simple daily activities such as reading, writing and driving. This condition can lead to vitreous hemorrhage and retinal detachment in up to 40% of patients – resulting in total blindness.A current treatment option includes a tissue-specific gene therapy approach based upon adeno-associated virus (AAV) mediated delivery of the full coding sequence for human RS1 gene to the retinal cells. This approach shows the need for more limited transduction and effective, efficient, and convenient method of administering gene therapy vectors to the eye. To improve transduction efficiency, inventors at the National Eye Institute (NEI) have developed a novel, non-invasive approach of applying electric current in combination with the gene therapy vector. This minimally invasive strategy significantly improves the transduction efficiency of AAV vectors in the mouse retina. This represents an improved method for restoring high levels of RS1 expression in the retina of XLRS patients.This invention is available for licensing and/or collaborative development partnerships.IC: NEINIH Ref. No.: E-164...
Source: NIH OTT Licensing Opportunities - Category: Research Authors: Source Type: research

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Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research
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Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
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Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: REVIEW ARTICLE Source Type: research
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