Archive for February, 2012
On the Trail to a Cure – a Visit to Oregon Health & Science University

Dr. Richard Weleber
In leading the Foundation’s science program, an important part of my job is evaluating the work that our research centers are doing. To stay on top of the science, researchers send progress reports, we convene teleconferences and I also make site visits. Through these meetings and conversations, we discuss the investigators’ goals and challenges, and what we can do to help them succeed. With 131 grants at 73 institutions, staying on top of research progress is a big part of what my team and I do.
Each of our genes is like an instruction manual. It tells the body how to make the proteins that carry out a specific function. So when a gene is defective, the instructions for that function are missing. Defective genes are the cause of most of the retinal degenerations the Foundation targets. Over the last 40 years, the Foundation has helped to identify almost 200 of those genes, so, as you can imagine, we’re big on genetic testing; find the defective gene, and you can begin to learn how to treat the retinal degeneration. And because genes are shared by families, genetic histories are a must.
Video Included
She’s best-known, these days, as “M,” director of the British Secret Service, in the last half-dozen James Bond films. But at 77, actress Judi Dench didn’t earn the title Dame Commander of the Order of the British Empire solely for turning the notion of “Bond girl” on its head. In fact, she earned that title back in 1988, after delivering what was already a career-and-a-half’s worth of stage and film performances, in everything from Shakespeare to the musical Cabaret. Since then, she’s worked non-stop, playing, among other notable roles, Queens Elizabeth (Shakespeare in Love) and Victoria (Mrs. Brown) on film and starring in a long-running BBC hit comedy, As Time Goes By.
When I joined the Foundation seven years ago, I was optimistic about the path we were on to find treatments and cures for retinal diseases. There was encouraging news from the research front. We were getting nice results in a variety of lab studies, and clinical trials – studies that involve actual patients — were beginning to appear on our radar screen. In fact, the Foundation’s clinical trial support organization, the National Neurovision Research Institute, had just been formed to move promising preclinical efforts into human studies.







Don’t Leap Over World Rare Disease Day
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