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Archive for the Usher syndrome Category

The Challenge

A Series on How People Affected by Retinal Diseases Adjust to Continual Vision Loss

Rachel Weeks — On the Run

Rachel Weeks and her guide, Kelly Griego, at a marathon qualifying raceWhile growing up, Rachel Weeks was extremely active. She swam, rode horses and joined the cheerleading squad, among other activities. Then she went off to college to become a pharmacist. But something was wrong. Her vision was failing, especially at night. A visit to the eye doctor revealed that the cause appeared to be retinitis pigmentosa. Only coupled with the hearing impairment she’d had since childhood, it was something even rarer—Usher syndrome.
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An FFB Board Member’s Perspective on Her Experience with Acupuncture

Moira Shea, an FFB board member who says she has benefited from acupuncture therapy, at home with her guide dog, Finnegan.A few weeks ago, the Foundation’s chief research officer, Dr. Steve Rose, authored a post about acupuncture that generated significant interest from readers at Eye on the Cure and on FFB’s Facebook page. The impetus for his post was a feasibility study at Johns Hopkins University, in which Dr. Ava Bittner, O.D., Ph.D., found that eight of 12 people treated with acupuncture had, as Dr. Bittner reported, “significant vision improvements in night vision, dark adaptation and/or visual field.”
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Iowa Researchers Use Skin Cells to Gain Insights into Retinitis Pigmentosa

A lab technicianThough retinal researchers have been working with induced pluripotent stem cells (iPSC) for little more than five years, I still find it amazing what they’re doing with them. Scientists are able to take small samples of skin or blood cells from a patient, genetically turn back the clock on those cells, so that they revert back to a stem-cell state, and then coax them forward to become retinal cells. From there, the resulting cells might be used as a transplantation therapy, as a platform for testing potential treatments in a dish and as a resource for learning why retinal diseases cause vision loss and how to prevent it.
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The Foundation’s Center Grants Foster Essential Retinal Research Collaborations

Question: How many researchers does it take to develop a retinal-disease treatment? (No, this isn’t a politically incorrect joke.) The answer is near the end of this article, but no looking ahead!
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RetNet: A Web-Based Guide to Every Retinal Disease Gene Known to Man

Dr. Stephen DaigerIt isn’t as addictive as posting your status to Facebook. Nor is it as entertaining as cat blooper videos on YouTube. And it won’t let you send 140-character rants about your political views through cyberspace. But if you are in any way connected to the world of retinal research, you’ll want to check out RetNet, the online catalogue of every known retinal degenerative disease gene. After you do, Steve Daiger, Ph.D., RetNet’s creator, will no doubt become your BFF.
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Update on Six Gene Therapy Clinical Trials Presented at VISIONS 2013

Dr Shannon BoyeWhether you’re a researcher or affected by a retinal disease, hearing the latest news from the clinical-trial front lines is a great perk of FFB’s annual conference. On the last day of VISIONS 2013, I had the privilege of moderating a compelling update on six gene-therapy clinical trials provided by Shannon Boye, Ph.D., a gene therapy developer at the University of Florida, and Michel Michaelides, M.D., a clinician-researcher at Moorfields Eye Hospital in the United Kingdom. All of these emerging treatments, given in recaps below, were made possible by Foundation funding.
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Patient Registries Help Advance Research for Rare Diseases

Image of Keyboard and StethiscopeRare disease research is challenging, because patient information about the conditions is inherently limited. Patient recruitment for clinical trials can be especially difficult, because so few people are affected.

To address these issues, a number of foundations, patient advocacy groups and governmental institutions have launched online registries to collect patient information for use by researchers, doctors and public health experts.
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All-Star Vision

When the Baltimore Orioles’ Adam Jones makes a great catch — a feat the Gold Glove centerfielder accomplishes on a regular basis — he isn’t thinking about his retinas. But in the five seconds it takes a baseball to leave an opponent’s bat and reach Jones’ glove, his retinas are processing an enormous amount of real-time visual information — continual changes in the contrast, velocity and trajectory of the ball as it rockets out of the infield, reaches high into the stadium lights (or the sun) and descends into the outfield.
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FFB’s New Research Playlists on Youtube

Image of Eye and YouTube IconEvery field of research has its “rock stars,” specialists so revered for their knowledge, expertise and experience, they’re famous in certain circles worldwide. And when it comes to retinal-disease research, the stars are invariably linked to the Foundation Fighting Blindness, which either funds or has funded their vision-saving work. So, after interviewing a handful of them recently, we’ve put together a few research-oriented playlists on our revamped YouTube page.
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A New Therapeutic Trick for Old Dogs

an image of a retina, courtesy of Dr. Nicolás Cuenca, University of Alicante.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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