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Archive for the Genetics Category

Donated Eyes Help Researchers Better Understand Retinal Diseases

a retina affected by RPMany people with retinal conditions such as retinitis pigmentosa (RP) and age-related macular degeneration don’t think they can donate their eyes after they’ve passed away. They can’t imagine anyone would want eyes that didn’t work well. But in reality, affected eyes are in big demand.
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A Surprising Number of Carrier Females are Affected by X-Linked Retinitis Pigmentosa

Calico catX-linked retinitis pigmentosa (XLRP) is an inherited retinal disease causing significant vision loss, sometimes complete blindness, in males. Females are often considered to be unaffected carriers of the condition, with a 50 percent chance of passing XLRP to their sons.
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Sun and Funds: FFB’s Annual Summer Campaign

Summer Challenge web pageWe all know that Memorial Day is not, technically, the first day of summer. But seeing as we like to stretch summer out as much as possible, it only makes sense to kick it off… well… a few weeks early. The same premise is behind FFB’s Summer Challenge to End Blindness campaign, which began Memorial Day weekend and continues through the upcoming season.
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The Top Research Advancements of 2014: How Fast Can We Go?

lab photoAs we approach 2015, it’s inspiring to look back on 2014 and recount the numerous advancements we’ve made in developing vision-saving treatments and cures. When I joined the Foundation nearly a decade ago, virtually nothing was in a human study. We were curing lots of blind mice, and clinical trials seemed elusive. But, today, more than a dozen promising therapies are being evaluated in people, and at least a dozen more clinical trials are expected to begin in the next few years.
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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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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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ARVO 2014: Breaking the 50-Percent Barrier in Successful Genetic Screenings

While it makes perfect sense to get excited about the progress being made in developing sight-saving treatments and cures, we shouldn’t lose sight (no pun intended) of the importance of successfully diagnosing patients. Though some therapies under development will work independent of patients’ defective genes, knowing their mutation(s) opens the door to a precise diagnosis, a more accurate prognosis and a much better understanding of which emerging therapies might save or restore vision down the road. Participation in clinical, or human, trials often requires a genetic diagnosis as well.
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Urine Test Helps Diagnose RP Caused by DHDDS Mutations

Microscope and lab equipmentResearchers from the Bascom Palmer Eye Institute of the University of Miami and Duke University are developing a urine test to help determine if the cause of autosomal recessive retinitis pigmentosa (arRP) in Ashkenazi Jews is mutations in the gene DHDDS. While it isn’t a substitute for a diagnosis through genetic testing, the urine test can verify that a given DHDDS mutation is, in fact, causing RP. (Some mutations might be benign.) It can also be used to identify people who are unaffected carriers of DHDDS-associated arRP. Results of the researchers’ related investigation were published in the Journal of Lipid Research.
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The Challenge

A Series on How People Affected by Retinal Diseases Adjust to Continual Vision Loss

Alice Bartlett – Back on That Horse

His name is Battle. He’s an Arabian, stands more than 15 hands (or 5 feet) tall and weighs 1,000 pounds. He’s been with Alice Bartlett since his birth 26 years ago, and she’s been riding him since he was 2.

Alice, by the way, is legally blind.
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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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