Abstract: A vector system for expressing a transgene in a cell, the vector system comprising a first vector and a second vector, wherein: (a) the first vector comprises in a 5? to 3? direction: a promoter; an intron; a 5? end portion of the transgene coding sequence (CDS); a splice donor sequence; and a first recombinogenic region; (b) the second vector comprises in a 5? to 3? direction: a second recombinogenic region; a splice acceptor sequence; and a 3? end portion of the transgene CDS; wherein the 5? end portion and the 3? end portion together constitute the transgene CDS, and wherein the intron is not capable of homologous recombination with the splice donor sequence to excise the 5? end portion of the transgene CDS.

Abstract: The present invention relates to a method of integrating an exogenous DNA sequence into a genome of a cell comprising contacting the cell with: a) a donor nucleic acid comprising: —at least one STOP codon and a translation initiation sequence (TIS) or —a ribosomal skipping sequence, and —said exogenous DNA sequence wherein said donor nucleic acid is flanked at 5? and 3? by inverted targeting sequences; b) a complementary strand oligonucleotide homologous to the targeting sequence and c) a nuclease that recognizes the targeting sequence.

Abstract: The present invention relates to constructs, vectors, relative host cells and pharmaceutical compositions which allow an effective gene therapy, in particular of genes larger than 5 Kb.

Abstract: The present invention relates to constructs, vectors, relative host cells and pharmaceutical compositions which allow an effective gene therapy, in particular of genes larger than 5 Kb.

Abstract: In various embodiments methods for the treatment and/or prophylaxis of lipofuscin-related disorders are provided. In certain embodiments the methods involve administration of an effective amount of a molecular tweezers to a subject in need thereof.

Abstract: The present invention relates to an activator of beclin 1-Vps 34 complex for use in the treatment and/or prevention of a bone growth disorder. The activator may be a polypeptide, a polynucleotide, a vector, a host cell or a small molecule. In particular the activator may be a Beclin 1 peptide or a fragment or a derivative thereof, a mTORC1 inhibitor or a BH3 mimetic. The present invention also relates to pharmaceutical composition comprising said activator.

Abstract: The present invention relates to constructs, vectors, relative host cells and pharmaceutical compositions which allow an effective gene therapy, in particular of genes larger than 5 Kb.

Abstract: The present invention relates to a method for the treatment of MPS VI comprising administering an arylsulfatase B by gene therapy to a subject in need thereof, wherein said subject is administered with an arylsulfatase B enzyme replacement therapy (ERT) less frequently than once a week.

Abstract: The present disclosure provides targeting peptides and vectors containing a sequence that encodes targetting peptides that deliver agents, to the eye. The present inventors have discovered peptides that function to target agents, such as viral vectors, to ocular cells. The present disclosure describes a method to utilize these novel peptides to direct, for example, viral capsids to the cell type of interest. In this instance, ocular cells (such as retinal cells) are targeted by the identified peptides. Vectors harboring capsid proteins modified to include such peptides can be used to provide therapeutic agents to the eye.

Abstract: The present invention relates to constructs, vectors, relative host cells and pharmaceutical compositions which allow an effective gene therapy, in particular of genes larger than 5 Kb.

Abstract: The present disclosure provides targeting peptides and vectors containing a sequence that encodes targetting peptides that deliver agents, to the eye. The present inventors have discovered peptides that function to target agents, such as viral vectors, to ocular cells. The present disclosure describes a method to utilize these novel peptides to direct, for example, viral capsids to the cell type of interest. In this instance, ocular cells (such as retinal cells) are targeted by the identified peptides. Vectors harboring capsid proteins modified to include such peptides can be used to provide therapeutic agents to the eye.

Abstract: The present invention relates to constructs, vectors, relative host cells and pharmaceutical compositions which allow an effective gene therapy, in particular of genes larger than 5 Kb.

Abstract: A method for the treatment of diseases associated with mutations in MYO7A or CEP290 genes, especially the Usher Syndrome type IB and Leber congenital amaurosis, by administering to a subject in need thereof an adeno-associated viral vector encoding a MYO7A or a CEP290 protein; genetic constructs and adeno-associated viral vectors for use in this method.

Abstract: There are disclosed methods and compositions for recovering or improving visual function in a mammal, by means of adeno-associated viral vectors suitable for gene delivery to mammalian retina.

Abstract: A method for the treatment of diseases associated with mutations in ABCA4 gene by administering, to a subject in need thereof, an adeno-associated viral vector encoding an ABCR protein; genetic constructs and adeno-associated viral vectors for use in this method.

Abstract: The use of compounds that interfere with the hedgehog signaling pathway for the manufacture of a medicament for preventing, inhibiting, and/or reversing ocular diseases related with ocular neovascularization. Particularly, the above-mentioned diseases are (wet) age-related macular degeneration, (proliferative) diabetic retinopathy, neovascular glaucoma, retinal vein occlusion, or retinopathy of prematurity (ROP).

Abstract: The present invention concerns the use of compounds that interfere with the hedgehog signaling pathway for the manufacture of a medicament for preventing, inhibiting, and/or reversing ocular diseases related with ocular neovascularization. Particularly, the above-mentioned diseases are (wet) age-related macular degeneration, (proliferative) diabetic retinopathy, neovascular glaucoma, retinal vein occlusion, or retinopathy of prematurity (ROP).

Abstract: A method for isolating, from a mixture, a virus having a surface protein with a binding site for sialic acid is provided. The method involves contacting the mixture with mucin which has been linked to a solid support and washing the solid support to remove material from the mixture is non-specifically bound to the mucin-linked support. Thereafter, the specifically bound virus (e.g., AAV4 or AAV5) may be removed in a further washing step utilizing a concentrated slat or solution with low pH. Also described are pharmaceutical kits containing solid supports linked to mucin for use in isolating virus having a surface protein with a binding site for sialic acid, or detecting the presence of the virus in a biological sample.

Abstract: There are disclosed methods and compositions for recovering or improving visual function in a mammal, by means of adeno-associated viral vectors suitable for gene delivery to mammalian retina.

Abstract: The present invention concerns the use of compounds that interfere with the hedgehog signaling pathway for the manufacture of a medicament for preventing, inhibiting, and/or reversing ocular diseases related with ocular neovascularization. Partcularly, the above-mentioned diseases are (wet) age-related macular degeneration, (proliferative) diabetic retinopathy, neovascular glaucoma, retinal vein occlusion, or retinopathy of prematurity (ROP).