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A Disease Results from Genetic and Environmental Factors

“We get 70% of information through eyes. Once close eyes, you live in a completely dark world. It is conservatively estimated that over 10 million people in China suffer from Age-related Macular Degeneration (AMD), and most of them didn’t pay much attention to it until they went blind.”

Yang Zhenglin shared his team's research results of AMD at the “Translational Medicine & Precision Medicine” Session of the 8th U.S.-China Health Summit. “Among all AMD patients in China, only 10% of them may go blind and the rest 90% can be cured as long as the disease is caught at an early stage. Therefore, AMD treatment should be started soon after it is diagnosed.”

YANG Zhenglin, Vice President, Sichuan Academy of Medical Science, Sichuan People’s Hospital

"Research and Application of Age-related Macular Degeneration in China"

Gene Mutation can Cause Vision Loss or Blindness We see objects because it reflects lights of the Sun. When lights first hit the eye, it must pass through retina which converts the light into chemical signals. We don’t see things without such conversion. And as genes involved in these processes, mutations of a single gene may cause low vision or even blindness.

Yang said, “the macula is an area in the retina. Pathological damage to the macula may result in distortion and wavy vision or even blindness in serious cases. The elders have a high prevalence of this disease. But as a great number of patients in China haven’t attached enough importance to it and get prompt treatment, they suffer from gradually severe vision loss with gradual macular degeneration.”

Correcting Faulty Genes to Restore Sight In 2005, Western countries made the first breakthrough in polygenic diseases with the help of chip technology. This breakthrough was made in AMD treatment as researchers discovered that a gene called Complement Factor H (CFH) is linked to at least 50 percent of all cases of AMD. In 2006, China and US joined hands in genetic research and found out that the genetic risk factor that most highly associated with AMD among Chinese people is HTRA1. It means that pathological changes may vary from country to country.

Fortunately, by studying the pathogenesis, Chinese and American experts have discovered that variations in the promoter region of HTRA1 gene are the root cause of AMD: such variations can result in an increase of the proliferation abilities of the cells, which increases the risk of AMD. According to YANG, new discoveries at home and abroad have informed us that AMD patients are not necessary to go blind as long as they are treated promptly.

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