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Researchers Find 50 Genes Linked to AMD, But What Does It Really Mean?

Image of blue DNA strandThanks to Paul Simon, we know there are “50 Ways to Leave Your Lover,” and now, thanks to research highlighted in the journal Genome Medicine, there are 50 newly identified genes that may be linked to age-related macular degeneration (AMD). Back in February, some in the media covered this development because AMD affects more than 10 million people in the U.S. alone, and 50 genes, is, well, a lot of genes to be linked to one disease.

But many people have asked me: What does this discovery really mean for treatments and cures for AMD?  What does it mean for genetic testing and predicting who will get the disease? These are great questions for which the answers are not yet fully known, but this discovery is an important step forward.

In the study, researchers examined nearly 70 donor eyes, about half of which were affected by AMD. They ultimately identified 50 genes that may help predict AMD, and may also help scientists find new targets for treatments. That said, the investigators caution that it’s too early to draw any conclusions regarding all 50 genes and their roles in causing AMD and in the disease’s progression. They are focusing their efforts on 20 of what they believe are the more closely linked genes, but much more work needs to be done.

The following analogy might better explain what this finding means. Imagine there’s a city-wide network of crime rings. Based on some initial evidence, detectives identify and bring in 50 suspects for questioning. While rounding up these suspects is an important step in breaking up the crime network, much more investigation is needed to determine who plays an important role in the network and who doesn’t. More evidence needs to be collected to make arrests. Additional suspects need to be brought in for interrogation. The detectives also want to understand better how the crime network is organized, and how the different players interact with one another.

What I’m saying is, in many ways, scientific research is like trying to solve a really tough crime.

I think it’s also important to note that the Genome Medicine study confirms some important characteristics of AMD that many experts already suspect. Namely, that the condition is triggered, in part, by the innate immune system, the part of the immune system that fights infection and other foreign organisms. Scientists believe that damage to the retina occurs when the innate immune system fails to shut off at the appropriate time. Treatments are in development that target this disease pathway and a gene called Complement Factor H, which was first linked to AMD in 2005. So, again, we’re on the right path, but more work needs to be done.

Paul Simon might want to follow our lead here. While he’s one of the world’s most prolific and celebrated singer-songwriters, it appears he still has some research to do. He, indeed, claims there are “50 Ways to Leave Your Lover,” but he only mentions five in his song. Can you name the five?


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