Eye on DNA, Literally

Eye on DNA, Literally

by Dr. Hsien-Hsien Lei
Posted May 1, 2007 in DNA and Disease, Gene Therapy

blue eyeRobert Johnson should be Eye on DNA’s spokesperson. The 23-year-old is the first recipient of gene therapy to correct a faulty copy of the RPE65 gene that causes severe retinal degenerative disease. The surgery involved injecting functional copies of the RPE65 gene mixed with a viral vector into the back of the eye underneath the retina. Several years ago, gene therapy successfully restored the vision of dogs with inherited retinal degerative disease.

The RPE65 gene on chromosome 1 encodes a protein that is found in the the retinal pigment epithelium. The protein is involved in allowing specific compounds to enter the visual cycle for processing. Other forms of RPE65 also help to move vitamin A that plays a part in nourishing the retina. A number of disorders are affected by RPE65 genetic mutations including Leber’s congenital amaurosis and juvenile retinitis pigmentosa, both are inherited.

Professor Robin Ali of the UCL Institute of Ophthalmology:

There are many forms of retinal degeneration, meaning the use of gene therapy treatments must be individually developed then tested in a separate clinical trial specifically for that disease. However, the results from this first human trial are likely to provide an important basis for many more gene therapy protocols in the future, as well as potentially leading to an effective treatment for a rare but debilitating disease.

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Comment by Barry Starr Subscribed to comments via email

Aren’t there some Rb gene therapy studies being done as well? I seem to remember some although they may have been antisense…


Barry: I did a quick search and saw some talk about gene therapy for retinoblastoma but those dated back almost 10 years ago….

Comment by Lindsay Subscribed to comments via email

its now jan.08… where can i find results on this surgery!??!


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