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Archive for the Usher syndrome Category

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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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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