University And Biotech Firm Team Up On Colorblindness Therapy
More than 10 million Americans have trouble distinguishing red from green or blue from yellow, and there's no treatment for colorblindness.
A biotech company and two scientists hope to change that.
On Wednesday, Avalanche Biotechnologies in Menlo Park and the University of Washington in Seattle announced a licensing agreement to develop the first treatment for colorblindness. The deal brings together a gene therapy technique developed by Avalanche with the expertise of vision researchers at the University of Washington.
"Our goal is to be treating colorblindness in clinical trials in patients in the next one to two years," says Thomas Chalberg, the founder and CEO of Avalanche.
Dalton the squirrel monkey during the color vision test.
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 common form of colorblindness in squirrel monkeys.
"This opened the possibility of ultimately getting this to cure colorblindness in humans," says Jay Neitz, who runs the Color Vision Lab at UW along with his wife, Maureen Neitz.
The couple knew that transferring their success from monkey to man would be a challenge. But they were determined, says Maureen Neitz. "We've spent our entire careers writing NIH grants where we say our goal is to improve human health."
Colorblindness is usually a genetic disorder. About 8 percent of men inherit a mutation on the X chromosome that makes it hard for them to distinguish between red and green. The condition affects only about 0.5 percent of women, who have two X chromosomes.
And color vision problems can be disabling. Emails arrive every day at Neitz lab with subject lines saying things like "colorblindness ruined my life," says Jay Neitz.
The stories often come from people who say they are unable to pursue careers as pilots or fire fighters or even electricians, whose work involves a lot of color-coded wires.
Colorblindness can also make it hard to do things like drive after dark, says Maureen Neitz. That became a big problem for her brother, who is colorblind, after his community switched from mercury street lamps, which give off bluish light, to sodium street lamps, which produce orange light.
"He came home and he was shaking," Maureen Neitz says. "He said everything was just a sea of lights, it was all the same colors. (He) could not tell the street lights from the brake lights from the stoplights."
Curing colorblindness involves delivering new genes to cells in the retina that respond to color. That's how Jay and Maureen Neitz cured the squirrel monkeys six years ago. But the technique they used required surgery on the retina, which is risky.
For people they needed a nonsurgical approach, something that had eluded researchers for years. Then a team at the University of California, Berkeley found a way to deliver genes using a simple injection into the vitreous, the clear gel that fills most of the eyeball.
Avalanche Biotechnologies has been working to improve and commercialize the Berkeley technique, says Chalberg. When he met Jay and Maureen Neitz at a scientific conference in 2012, he says, it was clear they could work together.
It should be possible to begin experimentally treating patients within a couple of years, Chalberg says, because the human eye has proved to be a safe and relatively easy place to use gene therapy. "We like to say what happens in the eye stays in the eye, because it's kind of this small enclosed space."
And a cure for colorblindness has the potential to help millions of people, Chalberg says. "People with this vision disorder have a very limited sensation," he says. "They can only see about 1 percent of the colors of a normal person. And so in some ways it's actually closer to being blind than it is to being sighted."
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Transcript
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. Transcript provided by NPR, Copyright NPR.
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