Cornell Research Foundation Inc.

University of Florida Research Foundation, Incorporated

University of Pennsylvania

Cornell University

Gregory M Acland

Gustavo D Aguirre

Orly Goldstein

Susan Pearce-Kelling

Jeanette S Felix

Duska J Sidjanin

Barbara Zangerl

Anna V Kukekova

Kunal Ray

Jean Bennett

William W Hauswirth

Samuel Jacobson

Albert M Maguire

Elaine Ostrander

Dayna Akey

Jennifer Lynn Johnson

A method for treating an ocular disorder characterized by the defect or absence of a normal gene in the ocular cells of a human or animal subject involves administering to the subject by subretinal injection an effective amount of a recombinant adeno-associated virus carrying a nucleic acid sequence encoding the normal gene under the control of a promoter sequence which expresses the product of the gene in the ocular cells. The ocular cells are preferably retinal pigment epithelial (RPE) cells, and the gene is preferably an RPE-specific gene, e.g., RPE65. The promoter is one that can express the gene product in the RPE cells. Compositions for subretinal administration are useful in this method.

Method of treating or retarding the development of blindness

Tools and methods are provided for determining whether or not a dog is genetically normal, is a carrier of, or is affected with or predisposed to progressive rod-cone degeneration. The method is based on the detection of a transversion from G to A at position corresponding to nucleotide position 1298 of SEQ ID NO: 1.

Identification of the gene and mutation responsible for progressive rod-cone degeneration in dog and a method for testing same

Provided are methods for identifying dogs as likely to be genetically normal, carriers of, or affected with Oculo-skeletal dysplasia (OSD) by determining the presence or absence of a drd2 COL9A2 mutation and/or a drd1 COL9A3 mutation. Also provided is a method for selective breeding of dogs and kits useful for carrying out the methods of the invention.

Method for identifying oculoskeletal dysplasia in dogs

Provided is a method for identifying dogs as likely to be genetically normal, carriers of, or affected with progressive rod-cone degeneration comprising analyzing nucleic acids from a dog and determining the presence or absence of one or more prcd polymorphisms in the nucleic acids. Representative prcd polymorphisms characteristic of a prcd haplotype are also provided.

Method for identifying progressive rod-cone degeneration in dogs

The invention relates to a method for identifying dogs which are genetically normal, heterozygous for, or homozygous for the mutation primarily responsible for Collie eye anomaly (CEA). The method comprises the steps of obtaining a biological sample from a dog and testing DNA in the biological sample for the presence or absence of a 7.8 kilobase deletion within chromosome 37 in which the CEA mutation is located. No deletion is indicative of a normal dog. A deletion on one allele of chromosome 37 is indicative of a dog that is heterozygous for the CEA mutation. A deletion in both alleles of chromosome 37 are indicative of a dog that is homozygous for the CEA mutation. Also provided is a kit for identifying a dog as normal, heterozygous for, or homozygous for the CEA mutation.

Diagnostic test for Collie Eye Anomaly

The invention relates to a method for identifying dogs which are genetically normal, heterozygous for, or homozygous for the mutation primarily responsible for Collie eye anomaly (CEA). The method comprises the steps of obtaining a biological sample from a dog and testing DNA in the biological sample for the presence or absence of a 7.8 kilobase deletion within chromosomein which the CEA mutation is located. No deletion is indicative of a normal dog. A deletion on one allele of chromosomeis indicative of a dog that is heterozygous for the CEA mutation. A deletion in both alleles of chromosomeare indicative of a dog that is homozygous for the CEA mutation. Also provided is a kit for identifying a dog as normal, heterozygous for, or homozygous for the CEA mutation.

Diagnostic test for collie eye anomaly

The present invention relates to an isolated nucleic acid molecule encoding canine RPE65. The present invention also relates to an isolated nucleic acid molecule encoding canine RPE65 having a mutation in one or both alleles indicative of a carrier of or a dog affected with congenital stationary night blindness. The present invention also relates to a method for identifying dogs which are genetically normal, are carriers of, or are affected with congenital stationary night blindness, said method including obtaining a biological sample from a dog and testing the biological sample for a gene encoding canine RPE65 having a nucleic acid mutation in one or both alleles indicative of a carrier of or a dog affected with congenital stationary night blindness. Another aspect of the present invention relates to a method for selecting dogs for breeding.

Identification of congenital stationary night blindness in dogs

The present invention relates to an isolated nucleic acid molecule encoding canine RPE65. The present invention also relates to an isolated nucleic acid molecule encoding canine RPE65 having a mutation in one or both alleles indicative of a carrier of or a dog affected with congenital stationary night blindness. The present invention also relates to a method for identifying dogs which are genetically normal are carriers of, or are affected with congenital stationary night blindness, said method including obtaining a biological sample from a dog and testing the biological sample for a gene encoding canine RPE65 having a nucleic acid mutation in one or both alleles indicative of a carrier of or a dog affected with congenital stationary night blindness. Another aspect of the present invention relates to a method for selecting dogs for breeding.

Provided are nucleic acid molecules which comprise at least a portion of a polymorphic genetic marker for determining whether a canine has a mutated progressive rod-cone degeneration disease (prcd) gene locus in one or both alleles. The genetic markers are located on canine chromosome 9 in a genomic region identified as the prcd-informative region. A method for making genetic markers representing polymorphic sequences located in the prcd-informative region of canine chromosome 9 comprises isolating a polymorphic DNA sequence in the prcd-informative region, using oligonucleotides complementary with at least a portion of the sequence to amplify the sequence, and analyzing canine chromosome 9 in a prcd-informative pedigree for the ability of the polymorphic sequence to co-segregate with the prcd gene locus by a linkage test. The presence of a mutated prcd gene locus in one or both alleles of a canine in a pedigree is detected by analyzing canine chromosome 9 in the canine for the presence of at least one polymorphic genetic marker, which co-segregates with the prcd gene locus, by a linkage analysis.

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Kennett Square, PA, United States of America

Gregory M Acland