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Debora Farber, Ph.D.

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Laboratory Address:
Los Angeles, CA 90095

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Los Angeles, CA 90095

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Department / Division Affiliations
Karl Kirchgessner Professor, Ophthalmology
Member, ACCESS Program: MBI IDP, Brain Research Institute, Jules Stein Eye Institute
Faculty, Molecular Biology IDP


Research Interest: Retinal biochemistry, Molecular biology, Genetics of retinal degenerations My research focuses on the isolation and characterization of genes involved in inherited retinal diseases using biochemistry, molecular biology, molecular genetics, animal models of retinal degeneration, and the DNA from affected patients. My laboratory has cloned and characterized several genes encoding enzymes and proteins that play a key role in vision. We have demonstrated that genetic abnormalities in one of the subunits of these enzymes, beta-phosphodiesterase, leads to blindness in some animal models (mice and dogs) and in some recessive forms of human retinitis pigmentosa. With the application of gene therapy, we have temporarily rescued degenerating mouse photoreceptors using modified adenoviral vectors to deliver the normal beta-phosphodiesterase gene to these cells. We are now investigating non-viral and non-invasive delivery systems to provide cells defective in a particular gene or gene product with the correct gene or drug. My laboratory has also isolated the mouse homolog of the gene causing X-linked juvenile retinoschisis; the gene causing disease in the rd7 mouse; RP1, a novel gene responsible for a type of human dominant retinitis pigmentosa; and the gene disrupted by an inversion that causes disease in the Rd4 mouse. Recently, we have initiated a program for the study of ocular albinism, a developmental disease involving deficient melanogenesis in the retinal pigment epithelium and misrouting of optic axons at the brain's optic chiasm. Other areas of investigation include isolation of cone-specific genes. Abnormalities in these genes may cause human cone dystrophies and inherited or age-related macular degenerations. In addition, we are trying to elucidate the mechanisms that regulate transcription and expression of genes that encode retinal proteins, and we are testing the DNA from patients affected with retinal dystrophies for mutations in candidate genes. We also study genes responsible for diseases of the central nervous system.


Farber Debora B, Theendakara V P, Akhmedov N B, Saghizadeh M ZBED4, A Novel Retinal Protein Expressed in Cones and Müller Cells. Advances in experimental medicine and biology. 2010; 664: 79-87.
Lerner LE. Piri N. Farber DB Transcriptional and post-transcriptional regulation of the rod cGMP- phosphodiesterase beta-subunit gene. Adv Exp Med Biol 2006; (572): 328-29.
Piriev NI, Gao Y, Danciger M, Mendoza E, Fishman GA, and Farber DB A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit. Ophthalmology 2005; 112(1): 159-166.
Viczian AS, Verardo M, Zuber ME, Knox, BE and Farber DB Conserved cone photoreceptor transcriptional regulation in vertebrates. FEBS Letters 2004; 577(1-2): 259-264.
Ozgul RK, Durukan H, Turan A, Oner C, Ogus A, Farber DB Molecular Analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa. Human Mutat 2004; 23(5): 523.
Nusinowitz S, Nguyen L, Radu R, Kashani Z, Farber D and Danciger M Electroretinographic evidence for altered phototransduction gain and slowed recovery from photobleaches in albino mice with a MET450 variant in RPE65. Exp Eye Res 2003; 77(5): 627-38.
Saghizadeh M, Brown, DJ, Tajbakhsh J, Chen Z, Kenney MC, Farber DB and Nelson SF Evaluation of techniques using amplified nucleic acid probes for gene expression profiling. Biomol Eng 2003; 20(3): 97-106.
Farber DB and Tsang SH Stationary night-blindness or progressive retinal degeneration in mice carrying different alleles of PDEgamma. Front Biosci 2003; 8: S666-675.
Akhmedov NB, Baldwin V, Minoofar KD, Zanger B, Kijas JW, Hunter L, Mellerssh C, Ostrander E, Acland G, Farber DB, Aguirre GD Cloning and characterization of the canine photoreceptor-specific cone-rod homeobox gene (CRX) and evaluation as a candidate for early onset photoreceptor disease in the dog. Mol Vis 2002; 8: 79-84.
Liu Q, Zhou J, Daiger SP, Farber DB, Heckenlively JR, Smith JE, Sullivan LS, Zuo J, Milam AH, Pierce EA The RP1 protein is located in the connecting cilia of human and mouse photoreptors. Invest Ophthalmol Vis Res 2002; 43: 22-33.
Lerner LE, Gribanova YE, Whitaker L, Knox BE, Farber DB The rod cGMP-phosphodiesterase beta-subunit promoter is a specific target for Sp4 and is not activated by other Sp proteins or CRX. J Biol Chem 2002; 277: 25877-25883.
Tsang SH, Yamashita CK, Doi K, Salchow DJ, Bouvier ME, Mendelsohn M, Gouras P, Farber DB, Goff SP in vivo studies of the gamma subunit of the retinal cGMP phosphodiesterase with a substitution at tyrosine-84. Biochemical J 2001; 353: 467-474.
Saghizadeh Mehrnoosh, Akhmedov Novrouz B, Yamashita Clyde K, Gribanova Yekaterina, Theendakara Veena, Mendoza Emmanuel, Nelson Stanley F, Ljubimov Alexander V, Farber Debora B ZBED4, a BED-type zinc-finger protein in the cones of the human retina. Investigative ophthalmology & visual science. 2009; 50(8): 3580-8.
Verardo Mark R, Viczian Andrea, Piri Natik, Akhmedov Novrouz B, Knox Barry E, Farber Debora B Regulatory sequences in the 3' untranslated region of the human cGMP-phosphodiesterase beta-subunit gene. Investigative ophthalmology & visual science. 2009; 50(6): 2591-8.
Yuan Alex, Farber Erica L, Rapoport Ana Lia, Tejada Desiree, Deniskin Roman, Akhmedov Novrouz B, Farber Debora B Transfer of microRNAs by embryonic stem cell microvesicles. PloS one. 2009; 4(3): e4722.
Souied Eric H, Reid Silvia N M, Piri Natik I, Lerner Leonid E, Nusinowitz Steven, Farber Debora B Non-invasive gene transfer by iontophoresis for therapy of an inherited retinal degeneration. Experimental eye research. 2008; 87(3): 168-75.
Saghizadeh Mehrnoosh, Akhmedov Novrouz B, Farber Debora B Identification and characterization of genes expressed in cone photoreceptors. Advances in experimental medicine and biology. 2008; 613(7): 235-44.
Young Alejandra, Powelson Elisabeth B, Whitney Irene E, Raven Mary A, Nusinowitz Steven, Jiang Meisheng, Birnbaumer Lutz, Reese Benjamin E, Farber Debora B Involvement of OA1, an intracellular GPCR, and G alpha i3, its binding protein, in melanosomal biogenesis and optic pathway formation. Investigative ophthalmology & visual science. 2008; 49(7): 3245-52.
Gao Y-Q, Danciger D, Ozgul RK, Jacobson SF and Farber DB Association of Asn306Ser variants in the genes for the SP4 transcription factor and the beta-subunitof transducin with digenic disease. Molecular Vision 2007; (13): 287-92.
Piri N, Mendoza E , Shih J, Yamashita, CK, Akhmedov NB, and Farber DB Translational regulation of the Rod Photoreceptor cGMP-Phosphodiesterase: the role of the 5???- and 3???-Untranslated Regions. Exp Eye Res 2006; 83: 841-848.
Kitamura E, Danciger M, Yamashita C, Rao NP, Nusinowitz S, Chang B, Farber DB Disruption of the gene encoding the beta1-subunit of transducin in the Rd4/+ mouse. Ophthalmol Vis Sci. 2006; 47(4): 1293-1301.
Tsang SH, Woodruff ML, Chen CK, Yamashita CY, Farber DB, Fain GL GAP-Independent Termination of Photoreceptor Light Response by Excess Gamma Subunit of the cGMP-Phosphodiesterase. J Neurosci 2006; 26(17): 4472-4480.
Linberg K, Fariss R, Heckenlively J, Farber DB, and Fisher, S Morphological Characterization of the Retinal Degeneration in Three Strains of Mice Carrying the rd3 Mutation. Visual Neuroscience 2005; 22(6): 721-734.
Lerner, LE Peng, GH Gribanova, YE Chen, S Farber, DB Sp4 is expressed in retinal neurons, activates transcription of photoreceptor-specific genes, and synergizes with Crx. The Journal of biological chemistry. . 2005; 280(21): 20642-50.
Akhmedov, NB Yamashita, CK Tran, D Piri, NI Aguirre, GD Farber, DB Two forms of the large tumor suppressor gene (Lats1) protein expressed in the vertebrate retina. Biochimica et biophysica acta. . 2005; 1728(1-2): 11-7.
Reid, SN Farber, DB Glial transcytosis of a photoreceptor-secreted signaling protein, retinoschisin. Glia. . 2005; 49(3): 397-406.
Piri, N Yamashita, CK Shih, J Akhmedov, NB Farber, DB Differential expression of rod photoreceptor cGMP-phosphodiesterase alpha and beta subunits: mRNA and protein levels. The Journal of biological chemistry. . 2003; 278(39): 36999-7005.
Reid, SN Yamashita, C Farber, DB Retinoschisin, a photoreceptor-secreted protein, and its interaction with bipolar and muller cells. The Journal of neuroscience : the official journal of the Society for Neuroscience. . 2003; 23(14): 6030-40.
Piriev, NI Yamashita, CK Shih, J Farber, DB Expression of cone photoreceptor cGMP-phosphodiesterase alpha' subunit in Chinese hamster ovary, 293 human embryonic kidney, and Y79 retinoblastoma cells. Molecular vision [electronic resource]. . 2003; 9: 80-6.
Gao, J Cheon, K Nusinowitz, S Liu, Q Bei, D Atkins, K Azimi, A Daiger, SP Farber, DB Heckenlively, JR Pierce, EA Sullivan, LS Zuo, J Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Proceedings of the National Academy of Sciences of the United States of America. . 2002; 99(8): 5698-703.
Tsang, SH Yamashita, CK Lee, WH Lin, CS Goff, SP Gouras, P Farber, DB The positive role of the carboxyl terminus of the gamma subunit of retinal cGMP-phosphodiesterase in maintaining phosphodiesterase activity in vivo. Vision research. . 2002; 42(4): 439-45.
Liu, Q Zhou, J Daiger, SP Farber, DB Heckenlively, JR Smith, JE Sullivan, LS Zuo, J Milam, AH Pierce, EA Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. Investigative ophthalmology & visual science. . 2002; 43(1): 22-32.
Danciger, M Hendrickson, J Lyon, J Toomes, C McHale, JC Fishman, GA Inglehearn, CF Jacobson, SG Farber, DB CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene. Investigative ophthalmology & visual science. . 2001; 42(11): 2458-65.
Lerner, LE Gribanova, YE Ji, M Knox, BE Farber, DB Nrl and Sp nuclear proteins mediate transcription of rod-specific cGMP-phosphodiesterase beta-subunit gene: involvement of multiple response elements. The Journal of biological chemistry. . 2001; 276(37): 34999-5007.