Research into Age-Related Macular Degeneration Opens Doors for TreatmentJul 17, 2014
Researchers at the Moran Eye Center are exploring some promising new avenues in understanding the genetic causes of age-related macular degeneration. Chief resident Leah Owen describes her recently published study that incorporates collaborators from around the world, searching for answers to better combat this common affliction.
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Interviewer: So Leah, tell me your name and your title. What do you do here?
Dr. Leah Owen: My name is Leah Owen and I am a Chief Resident in ophthalmology here at the John Moran Eye Center.
Interviewer: So you've recently had some new research come out. What can you tell me? What is it about?
Dr. Leah Owen: Well, I've been fortunate enough to work with Meg DeAngelis, who has a lab here at the Moran Eye Center. Together we've studied some of the genetic causes for Age-related Macular Degeneration. This disease effects a lot of people age 60 to 65 and over, and is present in two different distinct forms. And one, people may have heard of as the dry form and the other is termed the wet form of Macular Degeneration. We studied specifically some genetic causes for the wet for of Macular Degeneration so that we could better understand what causes it on a genetic level and hopefully use that information to design more targeted therapies for treatment of this condition.
Interviewer: Where was it published?
Dr. Leah Owen: It was published in I.O.V.S.
Interviewer: What does that stand for?
Dr. Leah Owen: Investigational Ophthalmology and Visual Sciences. We have collaborators all over the world. We replicated our findings within patients from Korea, from Ireland, and from Greece. And so we have wonderful collaborators who are co-authors on our paper from those countries as well as collaborators at Harvard who we worked with on the initial patient population. And all of them are co-authors on the paper.
Interviewer: So what did you uncover here that was new and surprising to you?
Dr. Leah Owen: Well, we looked at a gene pathway that is involved in the specific problem in Wet Macular Degeneration which is that there are blood vessels that grow in your retina, which is the back part of the eye that's very responsible for your ability to see. And these blood vessels disrupt the normal architecture of your eye so that you're no longer able to see within the central portion of your vision. You can't recognize faces. You can't drive. That's the part of your vision you use most on a daily basis. So this condition affects your quality of life and it affects your vision quite drastically. In fact, it's responsible for greater than 70% of all legal blindness that's relate to Macular Degeneration. So it's a very significant problem and we need to find better treatments for it. We looked at a gene pathway that's known to form blood vessels since that's such a prominent part of this disease. We looked at certain genes in that pathway and within individuals who had Wet Macular Degeneration. We looked for any mutations that were present in those people who had Wet Macular Degeneration and compared that with genes of people who were matched, and otherwise identical, but who didn't have Wet Macular Degeneration so that we could find mutations that were specific to people with Wet Macular Degeneration.
Interviewer: So where could this lead? I know you mentioned new treatments. AMD is a big problem and is this a piece of the puzzle? Where do you see things headed next?
Dr. Leah Owen: Yeah, this is a really exciting piece of the puzzle. We've described several mutations that are present just within one of the genes we looked at in this larger pathway. And so it points us to this gene being important in the Wet Macular Degeneration disease process. And this is a gene that although we've known about it, we haven't targeted therapies directly towards the activity of this gene. And so I think our research raises the possibility that targeting this gene and this gene's function within Wet Macular Degeneration disease process might be a more effective way of treating it. And so going forward we are going to ask that very question.
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