Gene Therapy Rescues Cone Function In Congenital Achromatopsia, Andras Komaromy, John J. Alexander, Jessica S. Rowlan, Monique M. Garcia, Vincent Chiodo, Asli Kaya, Jacqueline C. Tanaka, Gregory M. Acland, William W. Hauswirth, Gustavo D. Aguirre
Dec 2009
Gene Therapy Rescues Cone Function In Congenital Achromatopsia, Andras Komaromy, John J. Alexander, Jessica S. Rowlan, Monique M. Garcia, Vincent Chiodo, Asli Kaya, Jacqueline C. Tanaka, Gregory M. Acland, William W. Hauswirth, Gustavo D. Aguirre
Gustavo D. Aguirre, VMD, PhD
The successful restoration of visual function with recombinant adeno-associated virus (rAAV)-mediated gene replacement therapy in animals and humans with an inherited disease of the retinal pigment epithelium has ushered in a new era of retinal therapeutics. For many retinal disorders, however, targeting of therapeutic vectors to mutant rods and/or cones will be required. In this study, the primary cone photoreceptor disorder achromatopsia served as the ideal translational model to develop gene therapy directed to cone photoreceptors. We demonstrate that rAAV-mediated gene replacement therapy with different forms of the human red cone opsin promoter led to the restoration of cone function …
Canine Cngb3 Mutations Establish Cone Degeneration As Orthologous To The Human Achromatopsia Locus Achm3, Duska J. Sidjanin, Jennifer K. Lowe, John L. Mcelwee, Bruce S. Milne, Taryn M. Phippen, David R. Sargan, Gustavo D. Aguirre, Gregory M. Acland, Elaine A. Ostrander
Dec 2001
Canine Cngb3 Mutations Establish Cone Degeneration As Orthologous To The Human Achromatopsia Locus Achm3, Duska J. Sidjanin, Jennifer K. Lowe, John L. Mcelwee, Bruce S. Milne, Taryn M. Phippen, David R. Sargan, Gustavo D. Aguirre, Gregory M. Acland, Elaine A. Ostrander
Gustavo D. Aguirre, VMD, PhD
Cone degeneration (cd ) is an autosomal recessive canine disease that occurs naturally in the Alaskan Malamute and German Shorthaired Pointer breeds. It is phenotypically similar to human achromatopsia, a heterogeneous autosomal recessive disorder associated with three distinct loci. Both the canine disease and its human counterparts are characterized by day-blindness and absence of retinal cone function in adults. We report linkage of the canine cd locus to marker C29.002 on canine chromosome 29 at recombination fraction 𝛉=0.0 with a maximum LOD score of 24.68 in a series of informative outbred pedigrees derived from cd-affected Alaskan Malamutes. Conserved gene order …
Frequency Of The Codon 807 Mutation In The Cgmp Phosphodiesterase Β-Subunit Gene In Irish Setters And Other Dog Breeds With Hereditary Retinal Degeneration, Gustavo D. Aguirre, V Baldwin, K M. Weeks, Gregory M. Acland, Kunal Ray
Dec 1989
Frequency Of The Codon 807 Mutation In The Cgmp Phosphodiesterase Β-Subunit Gene In Irish Setters And Other Dog Breeds With Hereditary Retinal Degeneration, Gustavo D. Aguirre, V Baldwin, K M. Weeks, Gregory M. Acland, Kunal Ray
Gustavo D. Aguirre, VMD, PhD
Rod-cone dysplasia 1 (rcd1) in Irish setters is caused by a nonsense mutation in the cGMP phosphodiesterase β-subunit gene (PDE6B). We examined the frequency of the mutant allele in the Irish setter population and determined if the defect is present in dogs of other breeds which are affected with other inherited photoreceptor diseases. Between 1994 and 1997, samples were obtained from 436 clinically normal Irish setters, a red wolf, and dogs from 23 different breeds. The mutation in codon 807 of PDE6B was detected in genomic DNA by heteroduplex analysis, allele-specific PCR, or restriction enzyme digestion. …
