The first public welfare screening event since the launch of the China Eye Genome Project was held in Shenyang. 

  • 2019-10-07 13:06:18

"Doctor, my wife and I have bad eyes. If we have a baby, will it be inherited?" This is the screening site of the "genetic diagnosis and treatment of hereditary ophthalmopathy" public welfare research project, the first public welfare screening activity since the launch of the China Eye Genome Project on June 12.  Lv, who suffers from binocular albinism, asked director Sun Yan, an ophthalmologist of He Eye Specialist Hospital , such a question. 


Post-90s visually impaired couples do genetic tests for healthy babies

Lv and Xin, who live in Hunnan District, are a pair of post-90s newlyweds. Lv has eye albinism. Now his eyes can only see the first line of the visual acuity table. His wife, Xin, has CMIC and now has no sense of light. The couple came to the event not only to know if there was hope for treatment for their eyes, but also to come with the need to have a healthy baby. 

Director Sun Yan, the chief expert of He's ophthalmic genetic ophthalmology, collected blood samples for husband and wife at the scene, and asked both parents to also do gene testing, and finally determined the mutation gene of the couple, identified the genetic types, and evaluated the genetic probability. Director Sun Yan told them that Xin can be screened before birth at three months of pregnancy, and that if it is an IVF, the embryo can be genetically tested at three days to find out whether the baby is healthy at an earlier stage and avoid eye birth defects. At the same time, Sun Yan also said that in the future, with the advent of stem cells and gene therapy drugs, Lv's eye albinism will also have a definite treatment plan. 


Lv consults Director Sun Yan

The first public welfare screening campaign has been launched since the launch of the China Eye Genome Project.

The public welfare research project of "genetic diagnosis and treatment of hereditary ophthalmopathy" is the first public welfare screening activity since the successful launch of the China Eye Genome Project on June 8. Genetic testing activities for families with visual impairment in five districts of Shenyang were carried out by He Eye Specialist Hospital  Light of Care Blindness Prevention Foundation and Shenyang Blindness Association. 

The goal of the China Eye Genome Project is to complete the information database of ophthalmopathy samples, genes and clinical phenotypes of 100,000 Chinese population, to draw the complete map of ophthalmopathy gene variation in Chinese population, and to improve the guidelines for molecular screening and diagnosis of ophthalmopathy in Chinese population. The formation of eye genomics alliance plays a very positive role in reducing the birth of blind children and the accurate prevention and control of ophthalmic diseases. 


On June 8, the Chinese Eye Genome Project was successfully launched at the first International Conference of Genomics On Eye

In order to complete the collection of 100,000 ophthalmopathy samples, relying on the eye gene bank, He Eye Specialist Hospital  has carried out genetic eye disease gene screening in the schools for blind people of Liaoning and Guizhou provinces. Up until now, the blind school screening work in the two provinces has been completed. Next, He Eye Group will also work with SDIC and the Central Enterprise Poverty Alleviation Fund to carry out genetic eye disease gene screening activities in five provinces, including Yunnan, Shanxi and Hebei. 


He's ophthalmologist is examining the anterior segment of patients through a self-developed "mobile phone" slit light

It is understood that at present, there are 57,000 blind people in Shenyang, including about 5,000 young blind people, a considerable number of whom are caused by hereditary eye diseases. Sun Yan said that the collection of blood samples and eye clinical information of these people will help them to diagnose genetic ophthalmopathy, provide fertility guidance, and avoid the next generation of genetic disease genes. In the future, with 100,000 samples of ophthalmopathy, the analysis and diagnosis of hereditary ophthalmopathy will be more accurate, and gene therapy will make great breakthroughs and progress, which is of great significance to reducing genetic birth defects and eliminating congenital ophthalmopathy. 


Sun Yan, director of He's ophthalmic genetic ophthalmology clinic, interviewed by Liaoning Satellite TV "First Time" reporter


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