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Archive for the Genetics Category

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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Researchers Move Closer to Getting a Complete Genetic Picture of the Retina

The human retina is only about the size of a quarter. Yet a majority of the human body’s 20,000-plus genes are “expressed” in it. When a gene is expressed, it is giving information to a cell to make something. Sometimes the expression leads to the production of proteins critical to retinal function and health. In other cases, the expression doesn’t lead to anything meaningful that we know of at the moment. Identifying the genes and proteins that play a major role in retinal health and vision is an important step in finding preventions and cures for degenerative diseases.
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Patient Registries Help Advance Research for Rare Diseases

Image of Keyboard and StethiscopeRare disease research is challenging, because patient information about the conditions is inherently limited. Patient recruitment for clinical trials can be especially difficult, because so few people are affected.

To address these issues, a number of foundations, patient advocacy groups and governmental institutions have launched online registries to collect patient information for use by researchers, doctors and public health experts.
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DHA and EPA for Stargardt Disease — an Evolving Story

Dr. David KrizajI’ve been conducting or overseeing scientific research for more than 40 years (yikes!), but I continue to be humbled by its nuances, complexities and ambiguities. Sometimes, just when you think you have something figured out, you find evidence to the contrary. Sometimes, as Vladimir Lenin said, progress is made by taking “one step back, two steps forward.”
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Proving a Vision-Saving Treatment Works

Dr. Hendrik Scholl conducts an electroretinogram, or ERG, with a patient at the Wilmer Eye Institute.I am very excited about ProgSTAR, the Foundation’s new study monitoring and documenting the progress of vision loss and retinal changes in people with Stargardt disease. On the surface, the study might not sound very exciting, because it isn’t evaluating a potential cure. However, the information gleaned from ProgSTAR will be of enormous value in designing future clinical trials for Stargardt disease treatments.
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