Abstract: Aspects of the disclosure relate—compositions and methods useful for delivering minigenes—a subject. Accordingly, the disclosure is based, in part, on isolated nucleic acids and gene therapy vectors, such as viral (e.g., rAAV) vectors, comprising one or more gene fragments encoding a therapeutic gene product, such as a protein or peptide (e.g., a minigene). In some embodiments, the disclosure relates to gene therapy vectors encoding a ABCA4 protein (e.g., the gene product of ABCA4 gene) or a portion thereof. In some embodiments, compositions described by the disclosure are useful for treating diseases associated with mutations in the ABCA4 gene, for example, Stargardt disease.

Abstract: Aspects of the disclosure relate to compositions and methods useful for treating ocular ciliopathies, for example Leber congenital amaurosis (LCA). In some embodiments, the disclosure provides isolated nucleic acids comprising a transgene encoding a CEP290 protein fragment, and methods of treating ocular ciliopathies using the same.

Abstract: Aspects of the disclosure relate to compositions and methods useful for treating ocular ciliopathies, for example Leber congenital amaurosis (LCA). In some embodiments, the disclosure provides isolated nucleic acids comprising a transgene encoding a CEP290 protein fragment, and methods of treating ocular ciliopathies using the same.

Abstract: Aspects of the disclosure relate to compositions and methods for modulating expression of certain RPGR retinitis pigmentosa GTPase regulator (RPGR) proteins in a cell or subject. In some embodiments the disclosure provides expression vectors encoding one or more RPGR proteins and/or one or more inhibitory nucleic acids that target certain isoforms of RPGR, for example RPGRCONST. In some aspects, the disclosure relates to methods of treating retinitis pigmentosa (RP) in a subject by administering compositions that modulate RPGR expression or activity.

Abstract: Aspects of the disclosure relate to compositions and methods useful for treating ocular ciliopathies, for example Leber congenital amaurosis (LCA). In some embodiments, the disclosure provides isolated nucleic acids comprising a transgene encoding a CEP290 protein fragment, and methods of treating ocular ciliopathies using the same.

Abstract: Aspects of the disclosure relate to compositions and methods useful for delivering minigenes to a subject. Accordingly, the disclosure is based, in part, on isolated nucleic acids and gene therapy vectors, such as viral (e.g., rAAV) vectors, comprising one or more gene fragments encoding a therapeutic gene product, such as a protein or peptide (e.g., a minigene). In some embodiments, the disclosure relates to gene therapy vectors encoding a USH2A protein (e.g., the gene product of USH2A gene) or a portion thereof. In some embodiments, compositions described by the disclosure are useful for treating diseases associated with mutations in the USH2A gene, for example Usher Syndrome.

Abstract: Aspects of the disclosure relate to compositions and methods useful for delivering minigenes to a subject. Accordingly, the disclosure is based, in part, on isolated nucleic acids and gene therapy vectors, such as viral (e.g., rAAV) vectors, comprising one or more gene fragments encoding a therapeutic gene product, such as a protein or peptide (e.g. a minigene). In some embodiments, the disclosure relates to gene therapy vectors encoding a USH1B protein (e.g. the gene product of USH1B, also referred to as MY07A) or a portion thereof. In some embodiments, compositions described by the disclosure are useful for treating diseases associated with mutations in the USH1B (MY07A) gene, for example Usher Syndrome.

Abstract: Aspects of the disclosure relate to compositions and methods useful for delivering minigenes to a subject. Accordingly, the disclosure is based, in part, on isolated nucleic acids and gene therapy vectors, such as viral (e.g., rAAV) vectors, comprising one or more gene fragments encoding a therapeutic gene product, such as a protein or peptide (e.g., a minigene). In some embodiments, the disclosure relates to gene therapy vectors encoding a ABCA4 protein (e.g., the gene product of ABCA4 gene) or a portion thereof. In some embodiments, compositions described by the disclosure are useful for treating diseases associated with mutations in the ABCA4 gene, for example Stargardt disease.

Abstract: Aspects of the disclosure relate to isolated nucleic acids, rAAVs, and compositions configured to express an oxidative stress resistance protein (e.g., OXR1, NCOA7-AS, NCOA7-FL). In some embodiments, the compositions of the disclosure are useful for treatment of diseases or conditions associated with oxidative stress, for example neuronal degeneration.

Abstract: Aspects of the disclosure relate to compositions and methods useful for treating ocular ciliopathies, for example Leber congenital amaurosis (LCA). In some embodiments, the disclosure provides isolated nucleic acids comprising a transgene encoding a CEP290 protein fragment, and methods of treating ocular ciliopathies using the same.

Abstract: The present invention relates to Nephronophthisis, in particular to the NPHP6 protein (nephrocystin-6) and nucleic acids encoding the NPHP6 protein. The present invention also provides assays for the detection of NPHP6, and assays for detecting NPHP6 polymorphisms and mutations associated with disease states.

Abstract: The present invention relates to Nephronophthisis, in particular to the NPHP5 protein (nephrocystin-5) and nucleic acids encoding the NPHP5 protein. The present invention also provides assays for the detection of NPHP5 polymorphisms and mutations associated with disease states.

Abstract: The present invention relates to Nephronophthisis, in particular to the NPHP6 protein (nephrocystin-6) and nucleic acids encoding the NPHP6 protein. The present invention also provides assays for the detection of NPHP6, and assays for detecting NPHP6 polymorphisms and mutations associated with disease states.

Abstract: The present invention relates to a novel molecule useful for anthrax toxin inhibition in vivo and also provides a method for in vivo inhibition of anthrax toxin action using the new molecule.

Abstract: The present invention relates to Nephronophthisis, in particular to the NPHP5 protein (nephrocystin-5) and nucleic acids encoding the NPHP5 protein. The present invention also provides assays for the detection of NPHP5 polymorphisms and mutations associated with disease states.

Abstract: The present invention relates to a novel molecule useful for anthrax toxin inhibition in vivo and also provides a method for in vivo inhibition of anthrax toxin action using the new molecule.