University And Biotech Firm Team Up On Colorblindness Therapy : Shots - Health News Six years ago, husband-and-wife scientists used gene therapy to cure colorblindness in monkeys. Now they're trying to make it work for the millions of people with faulty color vision.

University And Biotech Firm Team Up On Colorblindness Therapy

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ROBERT SIEGEL, HOST:

Now some encouraging news for the more than 10 million Americans who are colorblind. A biotech company and a university today announced an agreement to develop the first treatment for the genetic disorder. NPR's Jon Hamilton reports.

JON HAMILTON, BYLINE: Today's announcement comes from Avalanche Biotechnologies in Menlo Park and the University of Washington in Seattle. The agreement has its roots in a scientific breakthrough that occurred six years ago. That's when two vision researchers at the University of Washington used gene therapy to cure a form of colorblindness in squirrel monkeys. One of those researchers is Jay Neitz. He says the implication was pretty obvious.

JAY NEITZ: This opened the possibility of ultimately getting this to cure colorblindness in humans.

HAMILTON: The other researcher is Maureen Neitz, Jay's wife. She says she and her husband knew it would be difficult to move from monkey to man, but they had to try.

MAUREEN NEITZ: We've spent our entire careers writing NIH grants where we say our goal is to improve human health.

HAMILTON: Colorblindness is usually a genetic disorder that is both disabling and common, at least in men. About 8 percent of men inherit a mutation on the X-chromosome that makes it hard for them to distinguish between red and green. Jay Neitz says he and Maureen get emails every day from people with poor color vision.

J. NEITZ: Oftentimes, the subject line says, colorblindness ruined my life - something along those lines.

HAMILTON: The stories often describe being unable to pursue a career as a pilot or firefighter or even an electrician who deals with color-coded wires. Colorblindness also can make it hard to do things like driving after dark. Maureen Neitz says that became a big problem for her brother, who is colorblind. He was fine, she says, until his community installed sodium streetlamps, which turned what had been bluish-white light into orange.

M. NEITZ: He came home, and he was shaking. And he said, oh, my God, everything was just a sea of lights. It was all the same colors. I could not tell the streetlights from the brake lights from the stoplights. He said it was horrible.

HAMILTON: Curing colorblindness involves delivering new genes to cells in the retina that response to color. That's what Jay and Maureen Neitz did to cure the squirrel monkeys six years ago. It still hasn't been tried in people because their technique required surgery on the retina, which is risky. Maureen says they needed a non-surgical approach.

M. NEITZ: And that is something - basically everyone that works in gene therapy of the eye has been working towards for a very long time with very little success.

HAMILTON: Until a team at Berkeley found a way to deliver genes using a simple injection into the clear gel that fills most of the eyeball. Avalanche Biotechnologies has been working to improve and commercialize the technique. Thomas Chalberg, the CEO of Avalanche, says he first met Jay and Maureen Neitz at a scientific conference in 2012. Before long, he says, they decided to work together.

THOMAS CHALBERG: Our goal is to be treating colorblindness in clinical trials - in human patients - in the next one to two years.

HAMILTON: Chalberg says that's possible because the eye has proved to be a safe and relatively easy place to use gene therapy.

CHALBERG: We like to say, what happens in the eye stays in the eye because it's kind of this small, enclosed space.

HAMILTON: So new genes don't show up elsewhere in the body. And Chalberg says a cure for colorblindness has the potential to help millions of people.

CHALBERG: People with this vision disorder have a very limited sensation. They can only see about one percent of the colors of a normal person. And so in some ways, it's actually much closer to being blind than it is to being sighted.

HAMILTON: Chalberg says the new gene therapy technique also could help people with many other eye diseases, including macular degeneration. Jon Hamilton, NPR News.

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