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Archive for the 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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Ready for the Spotlight: Rebecca Alexander Shares Her Story of Living with Usher Syndrome

Rebecca AlexanderFive years ago, when Rebecca Alexander appeared on The Today Show with her brother Peter, she already had quite a tale to share. Nearing 30, she was single, living in New York City and working as a full-time psychotherapist and part-time spinning instructor. She also had Usher syndrome, a disorder that causes both hearing and vision loss—and which she’d mostly kept under wraps.

After the show, “a literary agent asked about writing a book,” recalls Rebecca, whose parents, Terry and David, are national trustees of the Foundation Fighting Blindness (FFB). “And I thought, ‘I don’t know what to write about, or that anyone would care.’”
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Fascinating Facts About Retinal Cells

Diagram of retinal cellsYour eyes are not just windows to your soul, but to your health as well. People rarely pay attention to their eyes, until something goes wrong. The eye is a delicate organ, and vision is a complex process involving various components.
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Inspired by Progress in Usher Syndrome Research

Dr. Mark PennesiWhen I first heard about Usher syndrome, the leading cause of combined blindness and deafness, I was 19, fresh out of high school and very privileged for the opportunity to work as a summer student at the Retina Foundation of the Southwest with David Birch, Ph.D. I was quite moved by the patients — their eagerness for any kind of treatment and the fear that they might pass their disease on to other family members. That was almost 20 years ago. Back then, we knew very little about the condition, especially its genetic diversity, and there were no foreseeable therapies.
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How Evolution is Leading to Gene Therapies for More Retinal Diseases

Dr. John FlanneryAt first blush, gene therapy for retinal diseases seems so simple: Inject a tiny drop of liquid containing good copies of a gene to replace the bad, and you’re home free. Vision is saved, and, in some cases, it’s even restored.

But the reality is: Developing gene therapies that are safe, effective and long-lasting is very challenging in our world of genetically diverse retinal degenerations. Scientists have to design a delivery system that gets the genes to the right types of cells across the entire retina, but without affecting other cells.
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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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Let’s Get Behind This Senate Bill

The Capitol Building, Washington, DCKudos to Sen. Tom Harkin (D-Iowa), who, yesterday, introduced the Accelerate Biomedical Research Act in Congress. It’s a bill that seeks to restore absolutely necessary funding to the National Institutes of Health (NIH) that has been cut to the bone because of Congress’ years-long impasse on federal-budget spending. But as Sen. Harkin, chairman of the Senate’s Appropriations Subcommittee on Labor, Health and Human Services and Education, notes in his website post, “biomedical research should not be a partisan issue.”
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Despite Blindness, the Peaches are Sweet in Paran

Ignacio, a farmer with RP, tends to his peach orchard in Peru.Paran, a village of 300 people tucked in the foothills of the Andes near Lima, Peru, is known for its sweet peaches, but also its high rate of blindness. About one in eight Paranos have lost their vision.

Until recently, the villagers never understood the cause of the affliction, though they suspected there might be a genetic component because it runs in families. However, most had never even received care from a doctor.
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Lighting a Candle: The Author of a New Memoir Shares the Highs and Lows of Vision Loss

Nicole Kear with cane and bookI was 19 years old when I found out I was losing my vision as a result of a retinal disease called retinitis pigmentosa. Halfway through college, I was perched between girlhood and adulthood; I was developing my adult sense of self, planning what my grown-up life would look like. The news that I would slowly go blind changed everything.
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VISIONS 2014 — Clinical Trials Need Pioneers

Drs. Shannon Boye and Jacque DuncanWith about 20 clinical trials underway for retinal degenerative diseases, and many more ready to launch soon, the buzz about signing up for them has never been louder. When it comes to human studies for potential treatments and cures, everybody wants in.
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