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Archive for the Other diseases 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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Erik Weihenmayer’s Next Big Challenge

Erik WeihenmayerA longtime friend of the Foundation Fighting Blindness, Erik Weihenmayer is best-known as the blind guy who reached the top of Mount Everest. The first and only. But that was back in 2001. Since then, the 45-year-old, who lost his vision to retinoschisis in his teens, has embarked on a series of adventures—among them, scaling the Seven Summits, mountain-bike racing and starring in the reality show Expedition Impossible. He’s also written books and traveled the world as a motivational speaker. In fact, he spoke at FFB’s annual VISIONS conference in Minneapolis in 2012.
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Total Blindness and Non-24 Sleep Disorder

The circadian clockRecently, you may have been hearing and seeing commercials for a blindness-related sleep disorder called Non-24. In the radio ads I’ve heard, the narrator says he’s totally blind and suffers from the condition. The media spots are sponsored by Vanda Pharmaceuticals, which recently received approval from the U.S. Food and Drug Administration for a drug called Hetlioz to treat Non-24.
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Choroideremia Gene Therapy Improves Vision in Human Study

Dr. Robert MacLaren, lead investigator in the gene therapy trial.The development of retinal-disease gene therapies took a monumental step forward on January 16 with a report in The Lancet that researchers were able to improve vision in five of six people with choroideremia participating in a clinical trial.
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When a Condition is More than a Retinal Disease

Image of photoreceptors courtesy of Nicolas Cuenca, Ph.D., Universidad de Alicante.The Foundation Fighting Blindness is, of course, all about finding treatments and cures for retinal degenerative diseases. However, we are well aware that many of our constituents and their families are dealing with more than just vision loss. That’s because genetic defects causing retinal conditions can sometimes affect other parts of the body. The result is conditions often referred to as syndromes.
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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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Taking Their Story of Vision Loss on the Road

The Purvis FamilyAmong the 600 attendees at VISIONS 2013 in Baltimore are Rollie and Sandie Purvis, the parents of two brothers who star in a full-length documentary titled Driving Blind. While the average film-goer isn’t yet able to see the film, it has been, and continues to be, screened in festivals nationwide. Perhaps most importantly for those focused on retinal diseases, it tells the real-life story of two guys who wanted to see as much of the United States as possible before losing their vision completely.
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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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