Abstract: Compositions for use in treating subjects with USH2A-associated retinal and/or cochlear degeneration that result from mutations in exon 13 of the USH2A gene by deletion of exon 13 from the USH2A gene or transcripts, and methods of use thereof, as well as genetically modified animals and cells.

Abstract: Methods and compositions for gene therapy of retinal degeneration related to mutations in nicotinaminde mononucleotide adenylyltransferase 1 (NMNAT1).

Abstract: The present invention relates to methods and compositions for gene therapy of retinitis pigmentosa related to mutations in pre-mRNA processing factor 31 (PRPF31).

Abstract: Compositions for use in treating subjects with USH2A-associated retinal and/or cochlear degeneration that result from mutations in exon 13 of the USH2A gene by deletion of exon 13 from the USH2A gene or transcripts, and methods of use thereof, as well as genetically modified animals and cells.

Abstract: Methods and compositions for gene therapy of retinal degeneration related to mutations in nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1).

Abstract: The disclosure provides methods of deaminating adenosine and cytosine bases in a target nucleic acid sequence in an USH2A gene comprising contacting the USH2A gene with a base editor in association with a guide RNA (gRNA). In some aspects, base editing is used to restore US2HA function by disrupting a splice site in the USH2A gene sequence to induce skipping of an exon containing a mutation, while in other embodiments, base editing is used to restore US2HA function by correcting a point mutation e.g., in an exon) so as to correct mutations. The disclosure also provides complexes of adenosine base editors and guide RNAs, and complexes of cytidine base editors and guide RNAs. The disclosure further provides pharmaceutical compositions and cells comprising these complexes. The disclosure also provides vectors encoding these complexes, base editors, and gRNAs. In some embodiments, the methods and compositions provided herein are used to treat Usher syndrome and autosomal recessive retinitis pigmentosa (arRP).

Abstract: Methods and compositions for gene therapy of retinal degeneration related to mutations in nicotinamide mononucleotide adenylyltransferase 1 (NMNAT1).

Abstract: Compositions for use in treating subjects with USH2A-associated retinal and/or cochlear degeneration that result from mutations in exon 13 of the USH2A gene by deletion of exon 13 from the USH2A gene or transcripts, and methods of use thereof, as well as genetically modified animals and cells.

Abstract: The present invention relates to methods and compositions for gene therapy of retinitis pigmentosa related to mutations in pre-mRNA processing factor 31 (PRPF31).

Abstract: Methods of detecting a mutation associated with a genetic eye disease in a subject, using target enrichment and next generation sequencing.

Abstract: The present invention relates to methods and compositions for gene therapy of retinitis pigmentosa related to mutations in pre-mRNA processing factor 31 (PRPF31).

Abstract: An assay for 1,25-dihydroxy vitamin D is disclosed. One aspect of the invention involves adding pig receptor protein, radiolabeled, 1,25-dihydroxy vitamin D and biotinylated antibody capable of binding to the receptor to untreated blood serum. In performing a competitive binding assay, vitamin D transport protein, DBP, acts as a screen to minimize interference from related metabolites. A kit and an assay are disclosed.