Hereditary Blindness

The CBC reports this story about the discovery of gene CEP290. This mutated gene is the leading cause of blindness in newborns. Here is a snippet from the story:

"We can now describe the genetic basis of hereditary blindness in babies in up to 75 per cent of cases and that's spectacular," said Koenekoop.

"I would say this is the single most important gene for congenital blindness just based on numbers, frequency and impact."

Children with LCA lose their vision because the gene defects cause the cells in the eye to die or malfunction. They have trouble fixing on objects and their eyes appear to jiggle in their sockets.
The disorder affects one in 30,000 newborns. About 10,000 young Canadians and 150,000 people around the world suffer from the hereditary disease.

Seed and her husband, Mike, know the heartbreak of the diagnosis personally.
Her son, Erick, was diagnosed at about four months after her mother noticed something wrong.
"I had never had a baby before and thought all new babies had really kind of roving eyes," she said. "All of a sudden our whole world turned upside down and our whole paradigm of us as parents and us as a family completely shifted." But Seed's despair turned to hope after Koenekoop called this year to say her son had the CEP290 gene. "It was the second best group of news that I could ever hear in my whole life - the first being that my son could see."

The discovery last July of the ninth gene responsible for LCA means gene therapy treatment may be developed that could partially restore vision. The Foundation Fighting Blindness, which partially funds Koenekoop's research, is delighted. "It certainly brings great hope for the future for our families," said executive director Sharon Colle.

The first human gene replacement therapy trial for vision is slated to take place in Philadelphia in January on another LCA gene - RPE65. If successful, it could lead to a treatment for the million patients around the world who suffer from juvenile and adult forms of the congenital ailment. In animal studies, researchers have found 30 per cent of sight can be restored with gene therapy.

"There's certainly hope on the horizon with regards to gene therapy and also stem cell research," Seed said. The gene discovery also opens the possibility of prevention, Koenekoop said.

Cheers,

Colin