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Archive for the Genetics Category

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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Moving Vision-Saving Treatments Out to the People Who Need Them

A lab technician“Translational research” is the mantra for many of the retinal scientists funded by the Foundation Fighting Blindness. In a nutshell, the phrase refers to the advancement of vision-saving therapies from laboratories into clinical trials and out to the people who need them.
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Orphan Drugs Get Special Treatment

Image of lab equipmentYou wouldn’t think that being called an “orphan” is a good thing. But for developers of treatments for rare diseases — including inherited retinal conditions — “orphan” status provides valuable benefits, such as tax incentives, access to special research grants and assistance with clinical trial design. The orphan designation also gives seven years of market exclusivity to the developer of a treatment.

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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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