Retinal Biochemistry - Inherited Diseases

Debora Farber, PhD, DPhhc, Director

Contact Information
Phone: (310) 206-7375
Fax: (310) 794-7904
Email: [email protected]

Location Address
Stein Eye Institute
100 Stein Plaza, Room B-243
Los Angeles, CA 90095

Research Areas

Animal Models of Retinal Degeneration
Biochemistry of Retinal Degenerations
Molecular Biology of Retinal Degenerations
Genetics of Retinal Degenerations
Gene Regulation
Gene Therapy
Retinitis Pigmentosa and Other Allied Human Diseases
Ocular Albinism


Dr. Farber's 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. Her laboratory has cloned and characterized several genes encoding enzymes and proteins that play a key role in vision. Dr. Farber has demonstrated that genetic abnormalities in one of the subunits of these enzymes, b-phosphodiesterase, leads to blindness in animal models (rd mouse and rcd1 dog) and in some recessive forms of human retinitis pigmentosa. Utilizing gene therapy, Dr. Farber has temporarily rescued the rd mouse photoreceptors using modified adenoviral vectors and non-invasive, non-viral methods to deliver the normal b-phosphodiesterase gene to these cells. Her laboratory has also isolated the mouse homolog of the gene causing X-linked juvenile retinoschisis; the genes causing disease in the rd7 and the Rd4 mouse; and RP1, a novel gene responsible for a type of human dominant retinitis pigmentosa.

Other areas of investigation include isolation and characterization of cone-specific genes; elucidation of the mechanisms that regulate transcription and expression of genes that encode retinal proteins; testing of the DNA from patients affected with retinal dystrophies for mutations in candidate genes; and identification of the genes responsible for retinal disease in newly discovered mice that carry different forms of retinal degeneration. Dr. Farber is also involved in studies of ocular albinism.

Representative Publications

Kumar-Singh R, Farber DB. Encapsidated adenovirus minichromosome-mediated delivery of genes to the central nervous system: application to rescue of retinal degeneration. Hum Mo Genet 1998;7:1893-1900.

Guillonneau X, Piriev NI, Danciger M, Kozak CA, Cideciyan AV, Jacobson SG, Farber DB. A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. Hum Mol Gen 1999;8:1541-6.

Akhmedov NB, Piriev NI, Chang B, Rapoport A, Hawes NL, Nishina PM, Nusinowitz S, Heckenlively JR, Roderick TH, Kozak CA, Danciger M, Davisson MT, Farber DB. A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc Natl Acad Sci 2000;97:5551-6.

Lerner LE, Gribanova YE, Whitaker L, Knox BE, Farber DB. The rod cGMP-phosphodiesterase ?-subunit promoter is a specific target for Sp4 and is not activated by other Sp proteins or CRX. J Biol Chem 2002;277:25877-83.

Reid SNM, Yamashita C, and Farber DB. Retinoschisin, a photoreceptor secreted protein, and its interaction with bipolar and Müller cells. J Neurosci 2003;23:6030-6040.


National Eye Institute: Molecular Mechanisms in Retinal Degenerations, 7/1/06-6/30/11

National Eye Institute: Novel Transgenic and Molecular Approaches to the Study of Ocular Albinism, 7/1/03-6/30/07

National Eye Institute: Vision Research Training Program, 9/30/05-9/29/10 (with other Investigators)

The Foundation Fighting Blindness Center Grant, 7/1/05-6/30/10 (with other Investigators)

The Vision of Children: Studies on Ocular Albinism, 7/1/05-6/30/07

Available Positions

Postdoctoral Fellow with molecular biology/cell biology background