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Archive for the Gene Therapy Category

A Change in Identity Might Someday Save Vision

retina

No, people with inherited retinal diseases don’t have to adopt new names or personas, or go into witness protection programs, to save their vision. But by changing the identity of cells in the retina — namely rods — researchers may someday be able to slow or halt vision loss for those with retinitis pigmentosa (RP) and other related conditions.

While the innovative therapeutic approach is not ready to be tested in humans, a research team led by Tom Reh, PhD, University of Washington, and Sheng Ding, PhD, University of California, San Francisco, accomplished the feat in mice with RP. The investigators treated rods in the mice with a compound known as photoregulin1 (PR1) that blocked a gene involved in rod development called Nr2e3. That, in turn, reduced the expression (activity) of other rod-associated genes, making the rods less rod-like and more like cones. Doing so stopped retinal degeneration, preserving both rods and cones. Rods and cones are important, because they’re the cells that make vision possible. Results of the PR1 study were published online in the journal Investigative Ophthalmology & Visual Science.

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Researchers Identify Canine Model of LCA (NPHP5) — Pursue Gene Therapy

Photo of William Beltran, Artur Cideciyan, Gustavo Aguirre and Samuel Jacobson. Photo by John Donges/Penn Vet

William Beltran, Artur Cideciyan, Gustavo Aguirre and Samuel Jacobson. Photo by John Donges/Penn Vet

When scientists embark on developing a treatment for an inherited retinal disease, one of their first tasks is to identify or create a model of the condition. Disease models can be cells in a Petri dish, a genetically engineered mouse or rat, or larger animal such as a pig. Each type of model has its pros and cons, including cost and similarity of disease characteristics to those in humans.

The investigators then use the model to study how vision is lost — that is, they figure out which types of retinal cells degenerate, what is causing the degeneration, and how quickly the cells stop working. After they gain an understanding of the disease, researchers evaluate potential therapeutic approaches using the model as a testing platform.

The goal: Move a therapy into a human study.
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A Steady Hand in Saving Vision

Dr. Robert MacLaren performing eye surgery.A retinal researcher can develop the best vision-saving stem-cell or gene therapy ever imagined, but if the doctor or surgeon can’t deliver it to the retina safely and effectively, the treatment is worthless. It could even be harmful.
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Fighting Blindness Gets Sheepish

A sheep in tall grass.We all know from the nursery rhyme “Mary Had a Little Lamb” that “everywhere that Mary went, the lamb was sure to go.” But what if the lamb had a vision-robbing retinal disease, making it challenging to find Mary prancing around a sunlit meadow, or catching some rays on the Jersey Shore?
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ARVO 2016: Choroideremia Gene Therapy in Clinical Trial Continues to Perform Well

Dr. Robert MacLaren during surgery. The annual meeting of the Association for Research in Vision and Ophthalmology (ARVO) in Seattle won’t start for another three days, but already there’s exciting research news to report. Five of six patients in NightStaRx’s choroideremia gene-therapy trial at the University of Oxford in the United Kingdom, which began in 2013, continue to benefit from the treatment.
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Two New Videos Highlight FFB’s Vital Role in Retinal Research

Dr. Boye in her lab, conducting a tourAs everyone knows, there is never just one side to a story. That’s certainly true in the case of Dr. Shannon Boye, whose FFB-funded research is the subject of not just one but two new Foundation videos.
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For Rare Disease Day – The Many Benefits of Genetic Research

Rare Disease Day logoIt’s apropos that Rare Disease Day 2016 will be held on the rarest day on the calendar—Leap Day, February 29.

However, collectively, rare diseases are not uncommon. About 30 million Americans, nearly 10 percent of our population, are affected by one of 7,000 rare diseases. They’re an important public health issue, making it incumbent upon us to work hard to eradicate them.
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Treatments for Retinal Diseases are Leading to Therapies for the Brain

An image of the brainThe retina—the thin, fragile layer of tissue lining the back of the eye—gives us the invaluable gift of vision. It works like film or digital sensors in a camera by converting the light that enters our eye into electrical signals. Those signals are sent over the optic nerve to the back of the brain, where they are used to create the images we see.
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A Testament to the Human Spirit

Tyler MillardIn 2012, when Tyler Millard wrote the song “Alive”—now available on iTunes, with proceeds going to the Foundation Fighting Blindness—he was having a rough time. Since being diagnosed with retinitis pigmentosa (RP) seven years earlier, he’d lost enough eyesight to have to give up his plans to teach math. He’d also taken up the guitar and was singing and songwriting, although the gigs were few and far between.
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Retinal Researchers May Be Looking for You

A patient registers with My Retina Tracker.One of the biggest challenges in overcoming rare retinal diseases is, well, that they’re rare. There’s limited information about the conditions in humans, making it difficult for researchers to understand why they cause blindness and develop vision-saving treatments.
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