An international research team, funded in part by the Foundation Fighting Blindness, has used gene therapy to reactivate retinal cells that were previously unresponsive to light. The treatment was delivered to cones, the retinal cells that provide central and daytime vision. Investigators evaluated the gene therapy in two mouse models of retinal degenerative disease, as well as cultures of human retinal tissue. Using a variety of tests, the researchers demonstrated that the treated cells restored functional vision, and that the restoration of vision persisted over a long period of time.

For many years, people with retinal degenerative diseases such as retinitis pigmentosa (RP), Usher syndrome, and Stargardt disease have been frequently told by their eye care professionals that “there’s nothing we can do.”

Researchers funded by the Foundation Fighting Blindness are moving promising treatments and cures into human studies, and in the not-too-distant future, there are likely to be therapies that will enable eye care professionals to better treat many retinal degenerative diseases.

If you have an inherited retinal degenerative condition such as retinitis pigmentosa, Usher syndrome or Stargardt disease, should you get genetically tested? Is there a benefit in trying to determine the genetic variation that is causing your condition?

Blindness and visual impairment affect more people than you might realize; in fact, one out of every 28 Americans over the age of 40 suffers from some form of blindness. While retinal degenerative diseases cause vision loss in over 10 million Americans, it’s important that we remember that many millions more suffer blindness from other causes.

Applied Genetic Technologies Corporation (AGTC), a clinical-stage gene therapy development company, has raised $11.8 million in venture capital funding to advance treatments for the retinal degenerative diseases Leber congenital amaurosis (LCA) and achromatopsia. The investment will also be used to fund research for an early onset form of emphysema.

The National Neurovision Research Institute (NNRI), the Foundation Fighting Blindness’ clinical trial support organization, announced today that one of its key partners, biopharmaceutical company Oxford BioMedica, has established a collaboration with sanofi-aventis, a major international pharmaceutical company, to develop and commercialize gene therapy treatments for vision-robbing retinal degenerative diseases that affect tens of millions of people around the world.

The Foundation Fighting Blindness has appointed four new national trustees to further advance the organization’s fundraising, organizational development, and volunteer recruitment efforts.

Highlights from the 2009 Day of Science Meeting Hosted by the Foundation Fighting Blindness

Dr. Al Maguire captivated the Day of Science audience when he played a video of an eight-year-old boy, who after being treated with a landmark gene therapy, was able to quickly navigate an obstacle course he was previously unable to follow. The audience erupted in loud applause when Dr. Maguire added, “That boy has put away his blind cane and is now enrolled in a mainstream school.”

A new advance in gene therapy is providing hope for people with a debilitating retinal disease known as achromatopsia or day blindness. Researchers from the University of Pennsylvania have used gene therapy to successfully treat dogs with the same condition.

In a pioneering study at the University of Washington, FFB-funded researchers discovered a way to prod retinal cells to regenerate after injury. If perfected, the approach could be used to restore retinal tissue, and vision, for people with a variety of retinal degenerative diseases including retinitis pigmentosa and macular degeneration.

Two of the world’s top retinal researchers came to Capitol Hill on June 24 to educate congressional staff about their landmark clinical trial in which they used gene therapy to restore some vision in three young adults who were virtually blind from a severe form of retinitis pigmentosa known as Leber congenital amaurosis (LCA). Seventy people attended the briefing, which was hosted by the Alliance for Eye and Vision Research and the Foundation Fighting Blindness.

For people with the most advanced retinal degenerative disease - those who are blind or have only light perception - artificial retinas are providing promise for restored vision.

Second Sight® Medical Products is now conducting a Phase II human study of its second-generation artificial retina - the Argus II - in clinical centers in the U.S., Mexico, and Europe (England, France, and Switzerland).

Three young adults with virtually no vision can now read several lines on an eye chart and see better in dimly lit settings thanks to an innovative gene therapy aiming to reverse blindness in a severe form of retinitis pigmentosa known as Leber congenital amaurosis or LCA. One person was even able to better navigate an obstacle course several weeks after receiving the therapy.

In 2005, French researchers José Sahel, M.D., and Thierry Léveillard, Ph.D., won the Foundation’s Annual Trustee Award for the most promising advance of the year: Identifying a protein that shows great potential for preserving vision in people affected by a variety of retinal degenerative diseases. Sahel and Léveillard, both with the Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts in Paris, are now part of a new FFB-funded research center chartered with moving this promising protein into clinical trials.

Shortly after Alan Brint was born in 1997, his parents David and Betsy realized that his vision was not right. They were devastated to learn from retinal experts that young Alan was nearly blind because of a genetic disease called Leber congenital amaurosis (LCA). “It’s every parents’ worst nightmare,” says David, “to find out that something is tremendously wrong with your child. Blindness never even occured to us until the doctor said, “Your child is blind and there is nothing we can do at this time.”

An FFB-funded research team from the University of Wisconsin and the University of Utah used human neural stem cells — cells derived from the brain — to rescue vision in a rodent model of retinal degenerative disease.

Children born blind from a devastating retinal condition called Leber congenital amaurosis (LCA) may soon be able to see thanks to an innovative gene replacement therapy that has just moved into a clinical trial.

The umbilical cord is not only the lifeline for a developing baby, but it might also save sight for people affected by a variety of retinal degenerative diseases.

Dr. Matthew LaVail was awarded the Llura Liggett Gund Award—the most prestigious honor awarded by The Foundation Fighting Blindness (FFB)—for lifetime achievement in retinal disease research.

A 10-person evaluation of the Artificial Silicon Retina (ASR) microchip, developed by Optobionics (Naperville, Illinois), is being expanded to 20 patients at three sites: Johns Hopkins School of Medicine (Wilmer Eye Institute), Emory University School of Medicine/Atlanta Veterans Administration Medical Center, and Rush University Medical Center.

Ed Stone, Val Sheffield, Tom Casavant, and their colleagues at the University of Iowa’s Center for Macular Degeneration and Allied Retinal Diseases see no reason why there shouldn’t be cost-effective, efficient, and accurate genetic testing available for every person who has an inherited retinal degenerative disease (RDD). They’re certain that more and better treatments will be attainable, if genetic testing — and the information gleaned from it — is more accessible to researchers, ophthalmologists, and patients. With support from The Foundation Fighting Blindness and other organizations, they are well poised to make this plan for ubiquitous testing a reality.