September 18-19, 2015, hosted by the Center for Rare Diseases Development (CORD), the First Maternal and Infant Health Hospital affiliated to Tongji University and the International Research Center for Medical Management of Peking University, the 4th China Rare Disease Summit Forum "Held in Beijing."
Rare diseases, also known as "orphans," are diseases that have a very low incidence. According to the definition of the World Health Organization (WHO), rare diseases account for 0.65 ‰ to 1 总 of the total population. There are 6000-7000 rare diseases recognized internationally, accounting for about 10% of human diseases, 80% of which are caused by genetic defects and are hereditary. The base of rare diseases in China is very large, estimated at more than 10 million.
On the morning of September 19th, the sub-forum of “Rare Disease Research and Treatment†was held as scheduled. The diagnostic experts from the hospital and scientific research departments shared their experiences and experiences in the treatment of “rare diseasesâ€. Eventually, participants agreed. Precision medicine based on technologies such as “mass spectrometry†and “high-throughput sequencing†is the main treatment mode for future “rare diseasesâ€.
Insufficient diagnostic level, the actual birth defect rate is much higher than the statistics
According to the China Birth Defects Office, in the past few years, China’s annual births have ranged from 16 million to 17 million, close to the population of Australia. The birth defect rate in China is around 5.6%. These include congenital heart disease, 21-trisomy syndrome, neural tube defects, cleft lip, congenital hearing impairment, congenital hypothyroidism, and the birth defects are far more than these.
Professor Gu Xuefan, director of the Pediatric Genetic Diagnosis and Treatment Center of Shanghai Xinhua Hospital, introduced the “The status of diagnosis and treatment challenges of genetic metabolic diseases†to the participants. Inherited metabolic diseases are the earliest “rare diseasesâ€, and the breakthrough in the treatment of genetic metabolic diseases Genetic diseases are preventable and preventable, breaking the concept of family transmission for generations. Metabolic diseases no longer stay at the level of metabolism, metabolite determination, enzymatic determination, but with the development of molecular detection (especially genetic diagnosis), we are aware of more and more diseases, and the classification is coming. The finer it is.
Professor Shao Zonghong, director of the Department of Internal Medicine and Department of Internal Medicine of Tianjin Medical University General Hospital, said that the rare diseases of the blood system are very high, including: diseases of the white blood cell system, diseases of the red blood cell system (hereditary hemolysis, severe thalassemia, methemoglobinemia). Etc.), where accurate prenatal diagnosis of thalassemia can be achieved by genetic testing. His research team has done research on genetics and cloning, and found that genetic testing has a significant response to chemotherapy in some extremely refractory patients.
Professor Shen Wei, director of the Genetics and Deaf Center of Harvard Medical School and director of the Molecular Medicine Laboratory of Harvard Medical School, said that although deafness itself is not uncommon, many of it is caused by genetic variation. So far, there has been about one More than a hundred genes can be mutated to cause deafness. If carefully analyzed, the molecular mechanisms of deafness, phenotype and gene caused by genes are different; Professor Xu Kaifeng from the Department of Respiratory Medicine of Union Hospital said that including genetic diagnosis, gene therapy and targeted therapy in the treatment of "rare diseases" A very important role.
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