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Genetic Linkage

Another Bump in the Road for Gene Therapy?

Mercury can see, thanks to gene therapy. (Foundation for Retinal Research)
I am astonished, once again, by the complexity and unpredictability of science.

Last week, a paper in the Proceedings of the National Academy of Sciences (PNAS) reported that gene therapy to treat a form of blindness called Leber congenital amaurosis type 2 (LCA2) doesn’t stop degeneration of the rods and cones – the photoreceptor cells that provide vision. Gene therapy sends the genetic instructions for a protein called RPE65 into a layer of cells that supports the rods and cones – the retinal pigment epithelium, or RPE. The protein is essential for the eye to use vitamin A. And the gene therapy works, so far.  Read More 
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Retinal Stem Cells and Eye of Newt

Human RPE cells in culture look like cobblestones; 3% of them behave like stem cells, in dishes. Can they treat eye diseases from within? (Tim Blenkinsop)
More than a decade before Sally Temple, PhD, and her husband Jeffrey Stern, MD, PhD, discovered stem cells in human eyes, they suspected the cells would be there. They knew it from the salamanders.

A SPECIAL FONDNESS FOR AMPHIBIANS
When William Shakespeare included “eye of newt” ingredients of the Three Witches’ brew in Macbeth, he probably knew what he was doing. Dr. Temple, who grew up in northern England, said it’s long been common knowledge there that newts can regrow their parts. In the late 1800s, biologists began to study regeneration in salamanders.

By the 1950s, embryologists had discovered that certain amphibian eyes regenerate thanks to a single layer of cells, called the retinal pigment epithelium (RPE), which hugs the photoreceptors (the rods and cones).  Read More 
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Gavin's Story Revisited -- Childhood Blindness Mutation Discovered

Gavin's mutation (in the NMNAT1 gene), discovered 8 months ago, was announced July 29, in Nature Genetics.
I'm rerunning this blog post from November, because Gavin's mutation was announced today -- the first step towards a gene therapy! Tomorrow I'll run my blog on the discovery that is now on Scientific American blogs.


In a hotel ballroom on the campus of the University of Pennsylvania on a midsummer Saturday in 2010, an unusual roll call was under way at the Family Conference for the
Foundation for Retinal Research
. Betsy Brint, co-head of organization, was calling out what sounded like code words – CEP290,  Read More 
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