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Recent Study May Have Identified Genetic Markers Behind AMD Hero

Recent Study May Have Identified Genetic Markers Behind AMD

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Age-related macular degeneration (AMD) is a leading cause of visual impairment and blindness among individuals aged 65 years and above. The condition causes loss of cell function in the macula, which is an area of your retina that plays an important role in providing your central vision. Until recently, the reason behind macula’s cell function loss was unclear.

Recent Study May Have Identified Genetic Markers Behind AMD

Fortunately, researchers at the National Eye Institute (NEI) may have made a breakthrough in understanding the cause of AMD and its cure. Here’s what your eye care clinic has to say:

A Summary of the Study

Anand Swaroop, Ph.D., the study’s head researcher and chief of NEI’s Neurobiology-Neurodegeneration and Repair Laboratory, reported that they identified genetic clues that may be responsible for the development of AMD. The study involved genetic comparisons of people with and without AMD. The researchers identified 34 loci, or small genomic regions, as well as 52 genetic variants that had high affiliations with AMD.

Your eye specialist explains that the researchers studied 453 retinas from deceased human donors with and without AMD. Then, they sequenced each retina’s RNA, which transports instructions from DNA when making proteins. To search for the genetic variants involved with AMD, the researchers used expression quantitative trait loci (eQTL) analysis.

Upon identifying patterns, they looked for AMD-specific variants. Afterward, they evaluated whether these genetic variants regulate AMD genes at the promoters, which are DNA sequences that turn on genes, or at the enhancers that increase promoters’ activities.

Results of the Study 

Combining this study’s results with information from earlier AMD studies resulted in the identification of three target AMD genes, which until now had never been shown to play a role in AMD in previous AMD-centered research. Your eye care specialist also mentions that this NEI study added as many as 20 candidate genes that could hold the explanation behind the pathways and genes that lead to AMD development.

This study was among the first to focus on RNA in seeking to understand AMD’s genetic architecture. This could open up new possibilities and directions when it comes to analyzing the biology of the eye. Another key contribution of this study was the development of a retinal gene expression database, called EyeGEx, which can be used for future research not only about AMD, but also for studies on glaucoma, diabetic retinopathy and other genetic-related eye conditions.

As we get closer to zeroing in on the cause of AMD, we are also that much closer to finding a cure. Contact us at (347) 380-7070 or complete our form to learn more about AMD. We serve residents in Brooklyn and nearby New York areas.


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  • Written by Justin Bazan

    Dr. Justin Bazan is a 2004 SUNY College of Optometry graduate. He established Park Slope Eye in 2008 with the goal of providing high quality eyecare and incredible eyewear for the neighborhood. He has a true passion for optometry and stay up to date with the current research and trends. He is active in the profession and holds several leadership positions on the local, state and national levels. Dr. Bazan is a Park Slope local and can often be seen out in the neighborhood so be sure to say Hi next time you see him!

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