A Foundation-funded research team at the University of Pennsylvania — in collaboration with scientists from Michigan State University, the University of Florida and the University of Miami — has found a remarkable way to restore function to fledgling cones, the retinal cells most critical to our daily lives. Drs. András Komáromy and Gutavo Aguirre injected a high dose of a protein called ciliary neurotrophic factor (CNTF) into the eyes of older dogs with achromatopsia, a retinal disease that causes day blindness from cone dysfunction and degeneration. What happened next is extraordinary.
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Archive for the Usher syndrome Category
When I was 15, I was diagnosed with Usher syndrome, the leading cause of deaf-blindness in the United States. Although I’d had hearing aids since kindergarten, and could never see in dark places, it wasn’t until I started to trip over things in broad daylight that my parents became truly concerned.
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Researchers are developing a number of promising treatment approaches for blinding retinal diseases, which include: correcting genetic defects; replacing lost retinal cells with new ones; and implanting electronic chips, like the recently FDA-approved Argus II. But, sometimes, saving vision simply comes down to keeping retinal cells alive, or at least slowing their degeneration. Known as “neuroprotection,” this approach isn’t just for the retina — it has the potential to preserve and protect all kinds of neural cells, including brain tissue and cells of the central nervous system.
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“Translational research” is the mantra for many of the retinal scientists funded by the Foundation Fighting Blindness. In a nutshell, the phrase refers to the advancement of vision-saving therapies from laboratories into clinical trials and out to the people who need them.
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Stem cells are a highly promising treatment approach for a wide range of conditions and diseases, because they can be used to replace virtually any type of cell or tissue in the body lost to disease or injury. In the not-too-distant future, in fact, researchers will be able to turn stem cells into new photoreceptors for people who have lost vision to a retinal disease.
You wouldn’t think that being called an “orphan” is a good thing. But for developers of treatments for rare diseases — including inherited retinal conditions — “orphan” status provides valuable benefits, such as tax incentives, access to special research grants and assistance with clinical trial design. The orphan designation also gives seven years of market exclusivity to the developer of a treatment.
Photo courtesy of the National Eye Institute
I am always excited when a new research paper comes across my desk reporting on an emerging treatment that has saved or restored vision in an animal or cell-based model of retinal disease. The advancement provides meaningful hope for a therapy that can benefit people. But it raises a big question for the Foundation Fighting Blindness: What will it take to move the treatment into and through human studies?
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At the Foundation Fighting Blindness, we are always looking forward. Our scientists are continually focused on achieving the next sight-saving breakthrough, and our donors and volunteers are always looking for new opportunities to raise more money to drive the research.
But for a moment, as we put the wraps on 2012, it is very inspiring to look back on the past year and reflect on the many exciting advancements that have been made in our quest for treatments and cures.
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With the elections now behind us, the U.S. Congress needs to address an issue that could delay by years, perhaps even decades, the ability of those with serious diseases to access treatments that will at the very least change their lives for the better, if not save them. The looming “fiscal cliff” – Congress’ current means of tackling a substantial budget deficit – is a combination of tax increases and spending cuts that will kick in January 1, 2013, if no further legislative action is taken. And it’s a huge mistake.
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It’s a mystery that has confounded scientists for many years: Why don’t mice with Usher syndrome type 1 — one of three types of combined blindness and deafness in humans — lose vision? It is an important question, because mouse models help us understand how vision is lost and how effective treatments might be. But if the mouse isn’t losing vision, how can we tell if a potential vision-saving therapy is working?
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Steve is highly respected for his expertise and tireless commitment to finding treatments and cures for vision-robbing retinal diseases. 
As the Foundation's senior science writer, Ben writes science and research articles for the Foundation’s website, newsletters and Eye on the Cure blog. 
As the Foundation's senior writer, Rich writes and edits content for all of the Foundation’s print and online publications, including its blog, Eye on the Cure. 