Tags: Genetics Common Cause Blindness AMD macular degeneration

Genetics Tied to Common Cause of Blindness

By    |   Monday, 04 Mar 2013 11:52 AM

An international team of scientists has discovered seven genetic risk factors that hike the odds of developing age-related macular degeneration, a leading cause of blindness in seniors.

The finding, reported online in the journal Nature Genetics, could point the way to new ways to diagnose and treat AMD, which afflicts an estimated 2 million Americans.

The AMD Gene Consortium, a network of international investigators representing 18 research groups, said it identified seven new regions of the human genome — called loci — that are associated with AMD in a research project funded by the National Eye Institute (NEI), which is part of the National Institutes of Health. The study represents the most comprehensive analysis of genetic variations associated with AMD.
 
"This compelling analysis by the AMD Gene Consortium demonstrates the enormous value of effective collaboration," said NEI Director Paul A. Sieving, M.D. "Combining data from multiple studies, this international effort provides insight into the molecular basis of AMD, which will help researchers search for causes of the disease and will inform future development of new diagnostic and treatment strategies."
 
AMD affects the macula, a region of the eye’s retina responsible for central vision. As AMD progresses, tasks that require sharp vision — such as reading, driving, and recognizing faces — become more difficult and eventually impossible. Some kinds of AMD are treatable if detected early, but no cure exists.
 
Past studies have found age, diet, and smoking raise a person's risk of developing AMD. But genetics also plays a strong role.
 
For the new study, the AMD Gene Consortium reviewed data from 18 research groups to identify the seven new genetic risk factors. The analysis included data from more than 17,100 people with the most advanced and severe forms of AMD, which were compared to data from more than 60,000 people without AMD.
 
"Like a map that identifies neighborhoods where the electricity has been knocked out by a storm, the AMD Gene Consortium's study effectively tagged regions within the genome where researchers are most likely to find short circuits in DNA that cause AMD," said Anand Swaroop, chief of the NEI Laboratory of Neurobiology and Neurodegeneration and Repair, and a consortium leader.
 
"Once you are in the right neighborhood, going block to block or house to house to look for downed power lines goes much faster. Likewise, by limiting their search to the … genomic regions identified by the AMD Gene Consortium, scientists can more efficiently search for specific genes and causative changes that play a role in AMD."

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An international team of scientists has discovered seven genetic risk factors that hike the odds of developing age-related macular degeneration, a leading cause of blindness.
Genetics Common Cause Blindness AMD macular degeneration
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2013-52-04
Monday, 04 Mar 2013 11:52 AM
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