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Archive for the Stargardt disease Category

Genetics 101: How Some Retinal Diseases are Inherited

Egg and spermLong before the advent of genetic testing, or even knowledge of DNA and RNA, astute observers noticed that many traits were passed from one generation to another. But it still can be difficult to understand why some people inherit a genetic disease and others do not. Also, it’s often not clear which family members are at risk of inheriting a condition.
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ARVO 2014: Three Promising CEP290 Gene Therapy Alternatives

Renee Ryalls explains the dual-AAV gene therapy she's developing.While gene therapies for retinal degenerative diseases are making groundbreaking strides in both human and laboratory studies, the most widely and successfully used human-engineered virus for delivering replacement genes to retinal cells — the adeno-associated virus, or AAV — has one significant limitation. It can’t deliver relatively large genes, namely those larger than about 4.5 or 5 kilobases (kb). (Bases are the building blocks of a gene, and its size is expressed in kilobases.)
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Black and Light: The Ongoing Saga of Louie McGee

Image of Louie McGeeLouie McGee. The name sounds fictional, as if it belongs to a protagonist in a children’s book who, after overcoming insurmountable odds, inspires others. But Louie is real, and, due to Stargardt disease, he’s legally blind. The St. Paul, Minnesota, 7th grader also plays soccer, runs track and swims. And he’s a superstar FFB fundraiser who’s youth-chaired VisionWalks and hosted Dining in the Darks — blindness awareness events, during which kids eat meals blindfolded — at his school, most recently last month.
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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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DHA and EPA for Stargardt Disease — an Evolving Story

Dr. David KrizajI’ve been conducting or overseeing scientific research for more than 40 years (yikes!), but I continue to be humbled by its nuances, complexities and ambiguities. Sometimes, just when you think you have something figured out, you find evidence to the contrary. Sometimes, as Vladimir Lenin said, progress is made by taking “one step back, two steps forward.”
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