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Archive for the Usher syndrome Category

For Rare Disease Day, Help Us Fight Retinal Diseases

logo - Rare Disease DaySince its inception in 1971, the Foundation Fighting Blindness has focused its efforts on helping people with rare diseases. In the United States, a rare disease is defined as that which affects fewer than 200,000 people. And, in fact, most vision-robbing retinal diseases—retinitis pigmentosa, Stargardt disease and Usher syndrome included—fall into that category.
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CME – What It Is, and Why People with Retinal Diseases Should Know About It

Dr. FishmanIn this Q&A, Gerald Fishman, M.D., a world-renowned clinical researcher and longstanding member of FFB’s Scientific Advisory Board, discusses cystoid macular edema (CME), a potentially damaging accumulation of fluid in the retina affecting up to 32 percent of people with retinitis pigmentosa (RP) and related conditions. It’s a complication that can make matters worse for retinas already fragile from degenerative disease. While diagnosis isn’t always straightforward, CME can be treated to minimize vision loss.
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The Story Behind Be My Eyes, a New App for the Blind

Hans WibergConsidering how long trees have been around, it’s hard to believe dendrochronology, the practice of dating trees by their rings, wasn’t invented till the mid-1940s. “Anyone could have come up with that sooner,” Hans Jørgen Wiberg, a 51-year-old Denmark resident, says with a chuckle. “I kind of feel the same way.”
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Campaigning to End Blindness

Jacob RiderJacob Rider is a 14-year-old Claremont, New Hampshire, resident affected by an inherited retinal disease called Usher syndrome, which causes both hearing and vision loss. He’s also an energetic high-schooler with energy to spare—which makes him an ideal participant in My Campaign to End Blindness, a personalized fundraising program launched by FFB this past summer.
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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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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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A Must-Attend Event for People and Families Affected by Usher Syndrome

Usher Syndrome Family ConferenceFor those affected by Usher syndrome, the world’s leading cause of combined vision and hearing loss, there’s an upcoming event in Boston that should not be missed. Actually, it’s two events, back-to-back: the International Symposium on Usher Syndrome July 10 and 11; and the 6th Annual Usher Syndrome Family Conference July 12.
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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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Flight4Sight: A Man with Usher Syndrome Travels Around the Globe

Mike Walsh paragliding in New ZealandThere’s nothing like a sense of urgency to turn what seems like a crazy idea into reality. That’s what happened to Mike Walsh in January, when he decided to make exceptional use of a pass a friend who’s a Delta flight attendant had provided him before it ran out. She was compelled to do so because Mike, who’s the son of David Walsh, a member of FFB’s board of directors, has Usher syndrome, which affects both his hearing and his vision.
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