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Archive for the Diseases Category

Total Blindness and Non-24 Sleep Disorder

The circadian clockRecently, you may have been hearing and seeing commercials for a blindness-related sleep disorder called Non-24. In the radio ads I’ve heard, the narrator says he’s totally blind and suffers from the condition. The media spots are sponsored by Vanda Pharmaceuticals, which recently received approval from the U.S. Food and Drug Administration for a drug called Hetlioz to treat Non-24.
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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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UCI Stem Cell Pioneer Poised to Launch Clinical Trial for RP Patients

Dr. Henry Klassen, a Foundation-funded researcherHenry Klassen, M.D., Ph.D., is only about a year from launching a clinical trial for a stem cell treatment to rescue vision in people with retinitis pigmentosa (RP) and, potentially, other retinal diseases. At the Foundation’s recent Orange County Innovation Symposium, the University of California (UC), Irvine clinician-researcher reported that he and his colleagues are in the midst of final lab studies with patient-grade cells. Once finished, they’ll request authorization from the U.S. Food and Drug Administration to begin their human study.
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Hitting the Accelerator: A Man with RP Competes in the 2014 Paralympic Games

Mark Bathum makes a downhill run with his guide.Mark Bathum was in his late teens when he realized skiing wasn’t going to be a career option. Although he was enrolled in a ski school, where he’d proven himself a top junior racer a couple years prior, he was making so many mistakes on his runs, he didn’t have a chance of placing. And he didn’t know why. “Come race day,” he recalls, “I was getting lost on the course a lot.”
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Stem Cells Derived from Patient’s Skin Provide Insights into AMD

Dr. Stephen TsangInduced pluripotent stem cells (iPSC) — stem cells derived by genetically tweaking a small sample of a person’s skin or blood — are again demonstrating their power for helping researchers fight retinal diseases.

In this latest development, Stephen Tsang, M.D., Ph.D., a Foundation-funded researcher at Columbia University, used them to create a human model of age-related macular degeneration (AMD). The advancement not only gives us a better understanding of how AMD occurs; it provides a new, and potentially better, platform for testing vision-saving therapies. Results of the study were published in Human Molecular Genetics.

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How Growing Up a Blind Man’s Son Inspired the New Sitcom ‘Growing Up Fisher’

J.K. Simmons plays Mel Fisher, a blind lawyer and father, in the new NBC sitcom "Growing Up Fisher."If you’ve been watching the Olympics (and who hasn’t?), you’ve probably seen the promo ads for a new show called Growing Up Fisher, which will debut on NBC this Sunday, at 10:30 p.m., after the network airs the games’ closing ceremonies. And if you’ve seen the ads, you’ve probably noticed that the family patriarch, Mel Fisher, is—well—blind. And, yes, it’s a sitcom.
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When Research Offers More Than Just Hope

John and Pam CorneilleI’ve lost a lot of my sight to retinitis pigmentosa, or RP, and as Dr. Edwin Stone is conducting exciting stem cell research focused on the disease, I began the process of scheduling an appointment with him last summer. Dr. Stone’s home base is the University of Iowa, which is just a two-and-a-half-hour drive from my house in Illinois. When an appointment date was finally offered, I found it a little odd that it was for New Year’s Eve, but I was eager to go, so I said yes.
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Have Scientists Found a Better Way to Make Stem Cells?

Stem cell cultures, courtesy of the NIHCould soaking a patient’s blood cells in a liquid with the acidity of vinegar be a safer and more effective way to develop stem cells for vision-restoring, retinal-disease treatments? Based on a study recently published in Nature, it might be. The research has a long way to go before it is ready for prime time — i.e., evaluation in humans — but the results thus far are intriguing.
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The Power of Suggestion — Challenges of the Placebo Effect

A spoonful of placebo pillsIn the early 2000s, Harvard researcher Ted Kaptchuk collaborated with gastroenterologists on a placebo study of 262 people with irritable bowel syndrome (IBS). The participants were put into one of three groups.

The first cohort was told they were in a waiting line for an up-and-coming treatment and given little verbal support or additional information from the clinical practitioner.
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Choroideremia Gene Therapy Improves Vision in Human Study

Dr. Robert MacLaren, lead investigator in the gene therapy trial.The development of retinal-disease gene therapies took a monumental step forward on January 16 with a report in The Lancet that researchers were able to improve vision in five of six people with choroideremia participating in a clinical trial.
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