Image 1 of 5
Deborah Farber Laboratory
Molecular Biology of Retinal Degenerations
Uncovering the genetic and biochemical basis of inherited retinal disease
Deborah Farber, Ph.D.
Professor Emeritus
Department of Ophthalmology
Jules Stein Eye Institute
University of California, Los Angeles
Dr. Farber's research identified the genetic and biochemical basis of inherited retinal degenerations. Her landmark work characterized mutations in the β-subunit of rod cGMP-phosphodiesterase (PDE6B) that cause retinitis pigmentosa, elucidating the molecular mechanisms that drive photoreceptor cell death.
Key research questions include:
- What genetic mutations underlie inherited photoreceptor degenerations such as retinitis pigmentosa?
- How does dysregulation of cGMP-phosphodiesterase lead to photoreceptor cell death?
- What molecular pathways can be targeted to slow or prevent photoreceptor loss?
- How can mouse models of retinal degeneration inform the development of gene therapies for human disease?
Dr. Farber's discoveries laid the foundation for gene therapy approaches to treating inherited blindness and established the Jules Stein Eye Institute as a leader in the molecular genetics of retinal disease.