Release date: 2016-03-16 Image source: Baidu pictures In the hearing room of the Otorhinolaryngology Head and Neck Surgery Diagnostic Center of the General Hospital of the People's Liberation Army, one-year-old Cong Cong responded normally to all hearing tests. This also shows that with the help of preimplantation genetic diagnosis technology, China's first treatment of severe hereditary deafness was successful. Congcong's parents are carriers of the common pathogenic gene GJB2 of hereditary deafness in China. A couple of years ago, the couple finally experienced the tortuous gene diagnosis before embryo implantation, the haplotype analysis of fetal genotype after embryo implantation, and the genetic testing of amniotic fluid cells after 19 weeks of pregnancy. The birth of the test tube baby Cong Cong. One of the pioneers of this initiative is Wang Qiuju, director of the Institute of Otolaryngology at the General Hospital of the People's Liberation Army. In order to comprehensively and accurately locate the rickets in China, Wang Qiuju also co-sponsored the “China rickets genome project†(DGP) with the Chinese Academy of Sciences and the chairman of the Genetics Advisory Branch of the Chinese Genetics Society, in order to decipher the deafness password from the genetic level. . Depth revealing the characteristics of rickets genomics March 3 is China's 17th "Love Ear Day" and the 4th "International Love Ear Day". The World Health Organization has identified the theme of this International Day of Love as "Focus on Children's Hearing Health." For the prevention and rehabilitation of hearing impairment in children, China has organized and implemented five national five-year plans for hearing and speech rehabilitation, which has enabled more than 400,000 hearing-impaired children to recover to varying degrees. With the development of molecular biology technology in recent years, China has made breakthroughs in the field of rickets treatment. The birth of Congcong is a milestone breakthrough in the prevention and control of hoarseness in China from the second-level and third-level prevention to the first-level preventive eugenics. . However, in order to truly break the genetic mechanism of deafness and block hereditary deafness, and to keep the next generation away from the silent world, it is necessary to implement the Chinese rickety genome project. Not long ago, at the annual meeting of the members of the Genetics Advisory Branch of the Chinese Society of Genetics in 2016, Wang Qiuju said that more than 60% of deafness is caused by genetic factors. Gene defects and abnormal auditory pathways are the core causes of deafness. Among them, the auditory conduction pathway disorder is the key link leading to the occurrence of rickets. About 300~600 auditory related genes are responsible for the fine structure of the cochlea and the unique microenvironment and determine the hearing condition. Therefore, it is important to break the genetic and environmental causes of deafness. "However, the existing deafness gene detection focuses on the common mutations of the common genes GJB2, SLC2A4 and mitochondrial 12SrRNA, and the diagnosis rate is about 40%. More hereditary deafness has not yet confirmed the cause." Wang Qiuju expressed regret. DGP was officially launched in November last year to reveal the genomics of rickets. DGP is a new generation of sequencing technology (NGS) for genomics research on more than 100 kinds of deafness diseases, including congenital deafness, delayed deafness, senile deafness, noise deafness, etc., to deeply explore the genotype-phenotype of patients with rickets Features to achieve accurate prevention and control of rickets. The reporter learned that DGP plans to complete 100,000 cases of rickets in five years, draw a high-coverage gene map of deafness in Chinese population, develop guidelines for molecular screening and diagnosis of clinical rickets, and establish a genetic counseling system for rickets in China. Clinical rickets genetic counselor to improve the overall level of rickets prevention and control in China. At the same time, through statistical and aggregate analysis of the collected data, DGP will also establish a Chinese gill disease genotype and phenotype database to provide patients with comprehensive genetic counseling and clinical guidance. “At present, we have completed the initial talent training, and also completed the establishment of the information system, the unified sampling kit and the monitoring of the sampling system, because only the infrastructure is guaranteed, the project can be advanced, and it can help. DGP participating units are in accordance with the standard requirements, so that patients get the best detection and diagnosis." Wang Qiuju said in an interview with the media. Genetic technology helps prevent and control rickets "Advances in genetics technology have enabled us to understand the etiology and mechanisms of deafness from a genetic perspective and to diagnose and prevent diseases from a genetic perspective." Wang Qiuju said that the end point of rickets research is to discover all genes associated with rickets. And implement targeted interventions, gene blockade and gene therapy. With the advancement of genetic technology, deafness has become preventable, treatable and controllable. The development of pre-implantation genetic diagnosis technology has brought about breakthroughs in the prevention and treatment of deafness from the second-level and third-level prevention to the first-level preventive eugenics. Wang Qiuju said that by selecting embryos without disease-causing genes into mothers through preimplantation genetic diagnosis technology, she will be able to breed completely normal offspring, which is also a major technology in the treatment of rickets. application. In addition, Liu Yuhe, director of the Department of Otorhinolaryngology Head and Neck Surgery, Peking University First Hospital, believes that as a heterogeneous disease, hereditary deafness has both "simple" and "complexity" characteristics, and at least the genes associated with hereditary deafness are at least 300 studies on the relationship between hereditary deafness genes and phenotypes are essential. "Next-generation sequencing technology can not only be applied to new sputum gene research, but also better for the diagnosis of known deafness-related gene mutations." Liu Yuhe added. Not only that, hereditary deafness is divided into syndrome type and non-syndromic type according to whether it combines the lesions of other systems. Among them, syndrome type deafness accounts for about 30%, and the development of next-generation sequencing technology also makes syndrome type deafness. The mutations in disease-causing genes are constantly being discovered. Wang Qiuju said that DGP will conduct genetic research for deaf patients. The purpose is to achieve early detection, early diagnosis and early intervention of rickets through comprehensive and multi-level big data sample detection and analysis. Genetic counseling is the link DGP and other genome projects have the commonality of facing massive data on one side and various diseases on the other, and the only thing that can connect them together is “genetic counselingâ€. Genetic counseling is the basis for DGP implementation. As one of the DGP sponsors, He Lin also has high hopes for the profession of genetic counseling, especially genetic counselors. "The sequence is the battlefield, and the information is wealth. Only by following this law can it become the ultimate winner in this smoke-free 'gene world war.'" He Lin said, "The genetic counselor is interpreting your body." The mystery is the messenger of wealth gathering. The mission of the genetic counselor is to serve the common people and strive to reduce the incidence of genetic diseases and birth defects." "Genetic consultation is an indispensable part of gene sequencing to clinical application." Ma Duan, deputy director of the Birth Defect Research Center of Fudan University, pointed out that in the process of high-tech entry into clinical practice, the most important problem is reflected in clinical first-line genetic counseling. The shortage of teachers and the lack of relevant knowledge, especially the lack of knowledge about test report interpretation, genetic diagnosis and clinical management strategies, so genetic counselor training is the most important link. Wang Yongjin, director of the Center for Capacity Building and Continuing Education of the National Health and Family Planning Commission, also believes that genetic counselors are essential to reduce the incidence of genetic diseases and birth defects. He said that in the next step, the National Health and Family Planning Commission will gradually carry out the special program of genetic counseling skills and ability, establish the professional standards of Chinese genetic counselors, and promote the professionalization of genetic counseling in China. Source: Chinese Journal of Science Torque Hinges,Constant Torque Hinge,Adjustable Torque Hinge,Torque Door Hinges Ningbo Hengchieh Locking Technology Co., Ltd. , https://www.hengchieh.com