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Posts tagged cone-rod dystrophy

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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What Everyone with a Retinal Disease Should Know about Vitamin A

blue eyeIf you think of your retinas as the engines that power your vision, then vitamin A is their fuel. Without vitamin A in our diets, we wouldn’t see.
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Making Accurate Diagnoses Possible

As most people affected by retinal diseases know, firsthand, there are relatively few eye doctors who understand and can accurately diagnose those diseases. It can take referrals to several doctors before finding one — often at a Foundation-funded research center — with the knowledge and diagnostic tools necessary to determine which retinal disease is causing a patient’s vision loss.
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Social Media Alert: Top 13 Retinal Research Advancements of 2013

Top 13 Retinal Research Advancement of 2013I admittedly am not a heavy social-media user — I am not much for “tweeting” — but as I put together this list of the top retinal research advancements of 2013, I realized it would make great content for social media. Of course, my FFB colleagues will be sure to get the list out via our Facebook and Twitter pages.
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My Race to Cure Blindness

Michael Stone in a bike race Although a disease called cone-rod dystrophy has rendered me legally blind, I’m known, in certain circles, as a world-class triathlete. I swim as well as bike and run (often on mountain trails). I began competing before my vision deteriorated, and I’ve since learned to use my other senses. In fact, I like to think of my feet as my eyes. I take an awful lot of steps, and I don’t land heavily. If I’m on a trail and step on something that doesn’t feel right, I hop off, then move quickly forward. It’s usually on the run where I beat my competition.

But you know what? I can no longer shop for groceries.

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Getting the Right Diagnosis for a Retinal Disease

Research at the monitorDefinitive diagnoses for inherited retinal diseases don’t always come easy, even for the patients of the most knowledgeable doctors. Comments posted to this blog over the past year are a testament to that fact. Many readers are understandably frustrated by a doctor’s inability to determine exactly what retinal condition is affecting them or loved ones.
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