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  Faculty
Gustavo D Aguirre V.M.D., Ph.D.
Professor of Ophthalmology and Medical Genetics

Department of Clinical Studies -Philadelphia
3900 Delancey Street
School of Veterinary Medicine
University of Pennsylvania
Philadelphia, PA   19104-6010
Qualifications

VMD, University of Pennsylvania: 1968
Residency in Ophthalmology: 1968-70
Fellowship in Retinal Cell Biology: 1969-1971
PhD, University of Pennsylvania: 1975

Clinical Interests
Inherited eye diseases
Research Interests
Molecular basis of inherited eye diseases, and developing DNA-based tests for their control.
Selected Publications

Kukekova AV, Trut LN, Oskina IN, Kharlamova AV, Shikhevich SG, Kirkness EF, Aguirre GD, Acland GM. (2004) A Marker Set for Construction of a Genetic Map of the Silver Fox (Vulpes vulpes). J Hered. 95(3):185-194.

Kijas JW, Zangerl B, Miller B, Nelson J, Kirkness EF, Aguirre GD, Acland GM. (2004) Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. Mol Vis. 10:223-32.

Mazrier H, Van Hoeven M, Wang P, Knox VW, Aguirre GD, Holt E, Wiemelt SP, Sleeper MM, Hubler M, Haskins ME, Giger U. (2003) Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease. J Hered. 94(5):363-73.

Zhang Q, Beltran WA, Mao Z, Li K, Johnson JL, Acland GM, Aguirre GD. (2003) Comparative analysis and expression of CLUL1, a cone photoreceptor-specific gene. Invest Ophthalmol Vis Sci. 44(10):4542-9.

Kukekova AV, Aguirre GD, Acland GM. (2003) Cloning and characterization of canine SHARP1 and its evaluation as a positional candidate for canine early retinal degeneration (erd). Gene. 312:335-43.

Beltran WA, Zhang Q, Kijas JW, Gu D, Rohrer H, Jordan JA, Aguirre GD. (2003) Cloning, mapping, and retinal expression of the canine ciliary neurotrophic factor receptor alpha (CNTFRalpha). Invest Ophthalmol Vis Sci. 44(8):3642-9.

Lowe JK, Kukekova AV, Kirkness EF, Langlois MC, Aguirre GD, Acland GM, Ostrander EA. (2003) Linkage mapping of the primary disease locus for collie eye anomaly. Genomics. 82(1):86-95.

Sidjanin DJ, Miller B, Kijas JK, McElwee J, Pillardy J, Malek J, Pai G, Feldblyum T, Fraser C, Acland G Aguirre G. (2003) Radiation Hybrid Map, Physical Map and Low-Pass Genomic Sequence of the Canine prcdRegion on CFA9, and Comparative Mapping with the Syntenic Region on Human Chromosome 17. Genomics. 81:138-148. 12620391

Kijas JW, Miller BJ, Pearce-Kelling SE, Aguirre GD, Acland GM. (2003) Canine models of ocular disease: outcross breedings define a dominant disorder present in the English mastiff and bull mastiff dog breeds. J Hered. 94(1):27-30.

Li K, Zhang Q, Johnson JL, Aguirre GD. (2003) Comparative analysis, gene organization and expression of canine TCTE1L. Gene. 303:207-12.

Ho TT, Maguire AM, Aguirre GD, Surace EM, Anand V, Zeng Y, Salvetti A, Hopwood JJ, Haskins ME, Bennett J. (2002) Phenotypic rescue after adeno-associated virus-mediated delivery of 4-sulfatase to the retinal pigment epithelium of feline mucopolysaccharidosis VI. J Gene Med. 4(6):613-21.

Aguirre GD, Yashar BM, John SK, Smith JE, Breuer DK, Hiriyanna S, Swaroop A, Milam AH. (2002) Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15. Exp Eye Res. 75(4):431-43.

Tao W, Wen R, Goddard MB, Sherman SD, O'Rourke PJ, Stabila PF, Bell WJ, Dean BJ, Kauper KA, Budz VA, Tsiaras WG, Acland GM, Pearce-Kelling S, Laties AM, Aguirre GD. (2002) Encapsulated cell-based delivery of CNTF reduces photoreceptor degeneration in animal models of retinitis pigmentosa. Invest Ophthalmol Vis Sci. 43(10):3292-8.

Zangerl B, Zhang Q, Pearce-Kelling SE, Aguirre GD. (2002) Molecular cloning, characterization and mapping of the canine glucocorticoid receptor DNA binding factor 1 (GRLF1). Gene. 294(1-2):167-76.

Ponder KP, Melniczek JR, Xu L, Weil MA, O'Malley TM, O'Donnell PA, Knox VW, Aguirre GD, Mazrier H, Ellinwood NM, Sleeper M, Maguire AM, Volk SW, Mango RL, Zweigle J, Wolfe JH, Haskins ME. (2002) Therapeutic neonatal hepatic gene therapy in mucopolysaccharidosis VII dogs. Proc Natl Acad Sci U S A. 99(20):13102-7.

Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, Sargan DR, Aguirre GD, Acland GM, Ostrander EA. (2002) Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet. 11(16):1823-33.

Zangerl B, Zhang Q, Acland GM, Aguirre GD. (2002) Characterization of three microsatellite loci linked to the canine RP3 interval. J Hered. 93(1):70-3.

Zhang Q, Acland GM, Wu WX, Johnson JL, Pearce-Kelling S, Tulloch B, Vervoort R, Wright AF, Aguirre GD. (2002) Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet. 11(9):993-1003.

Kijas JW, Cideciyan AV, Aleman TS, Pianta MJ, Pearce-Kelling SE, Miller BJ, Jacobson SG, Aguirre GD, Acland GM. (2002) Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 99(9):6328-33.

Akhmedov NB, Baldwin VJ, Zangerl B, Kijas JW, Hunter L, Minoofar KD, Mellersh C, Ostrander EA, Acland GM, Farber DB, Aguirre GD. (2002) Cloning and characterization of the canine photoreceptor specific cone-rod homeobox (CRX) gene and evaluation as a candidate for early onset photoreceptor diseases in the dog. Mol Vis. 8:79-84.

Verdugo ME, Scarpino V, Moullier P, Haskins ME, Aguirre GD, Ray J. (2001) Adenoviral vector-mediated beta-glucuronidase cDNA transfer to treat MPS VII RPE in vitro. Curr Eye Res. 23(5):357-67.

Milam AH, De Castro EB, Smith JE, Tang WX, John SK, Gorin MB, Stone EM, Aguirre GD, Jacobson SG. (2001) Concentric retinitis pigmentosa: clinicopathologic correlations. Exp Eye Res. 73(4):493-508.

Sidjanin DJ, Xue F, McElwee J, Johnson JL, Holmgren C, Mellersh C, Ostrander E, Acland G, Aguirre GD. (2001) Cloning of canine gamma-tubulin (TUBG1) cDNA and mapping to CFA9. Anim Genet. 32(5):328-9.

Zhang Q, Acland GM, Zangerl B, Johnson JL, Mao Z, Zeiss CJ, Ostrander EA, Aguirre GD. (2001) Fine mapping of canine XLPRA establishes homology of the human and canine RP3 intervals. Invest Ophthalmol Vis Sci. 42(11):2466-71.

Acland GM, Aguirre GD, Ray J, Zhang Q, Aleman TS, Cideciyan AV, Pearce-Kelling SE, Anand V, Zeng Y, Maguire AM, Jacobson SG, Hauswirth WW, Bennett J. (2001) Gene therapy restores vision in a canine model of childhood blindness. Nat Genet. 28(1):92-5.

Syed N, Smith JE, John SK, Seabra MC, Aguirre GD, Milam AH. (2001) Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. Ophthalmology.. 108(4):711-20

Pearce-Kelling SE, Aleman TS, Nickle A, Laties AM, Aguirre GD, Jacobson SG, Acland GM. (2001) Calcium channel blocker D-cis-diltiazem does not slow retinal degeneration in the PDE6B mutant rcd1 canine model of retinitis pigmentosa. Mol Vis. 7:42-7.