14 medical institutions join the Yangtze River Delta Rare Disease Laboratory Diagnosis Collaboration Center

　　Good news for patients, 14 medical institutions join the Yangtze River Delta Rare Disease Laboratory Diagnosis Collaboration Center

　　The last day of February every year is International Rare Disease Day, and this year’s International Rare Disease Day is February 28.

　　As we all know, the incidence of rare diseases is relatively scattered and there are many types. There are few cases in a single medical institution, and diagnosis is very difficult. Compared with other diseases, standardized laboratory diagnosis of rare diseases plays a key role in the diagnosis of diseases.

　　On February 28, The Paper reporter learned from the Shanghai Municipal Health Commission that, in order to popularize the application of new technologies as soon as possible, reduce the incidence of birth defects and improve the diagnosis of rare diseases, as early as 2019, Shanghai, Jiangsu Province, Zhejiang Province Under the leadership of government functional departments, Anhui Province, led by the Shanghai Clinical Laboratory Center, and related units in three provinces and one city, established the "Yangtze River Delta Rare Disease Laboratory Diagnosis Collaboration Center". The establishment of the center provides families with rare diseases seeking medical treatment. Hope for more confirmed diagnosis.

　　Up to now, 14 medical institutions in the Yangtze River Delta region have joined the collaboration center, and its expert committee is composed of rare disease laboratory diagnosis experts from three provinces and one city.

The center will further develop the experimental diagnosis system for rare diseases in the Yangtze River Delta, establish an experimental diagnosis linkage mechanism and resource sharing mechanism, formulate unified technical standards and quality specifications step by step, and establish a standardized system for experimental diagnosis of rare diseases that meets my country’s national conditions and international standards. Promote scientific and technological innovation in experimental diagnosis technology for rare diseases, and facilitate the early detection, diagnosis and treatment of rare diseases.

　　Rare diseases, also known as "orphan diseases", refer to diseases with very low prevalence and rare diseases.

Currently, there are nearly 7,000 species of rare diseases identified globally, affecting 300 million people worldwide.

The total number of people with rare diseases in China is close to 20 million, and there are several times more genetic carriers. Therefore, rare diseases are not rare in China.

Most rare diseases are chronic serious diseases, usually life-threatening.

　　Currently, "common" rare diseases include amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), patients with Kennedy disease, myasthenia gravis, adolescent Parkinson’s disease, blood Friends’ disease, multiple sclerosis, pulmonary lymphangiomyomatosis, spinal cerebellar ataxia, osteogenesis imperfecta, angel syndrome, etc.

　　The Shanghai Health Promotion Center stated that birth defects and rare diseases have become the leading cause of death for children under five in my country.

Birth defects refer to abnormalities in the body's structure, function, or metabolism that occur before a baby is born. It is the main cause of early miscarriage, stillbirth, infant death and congenital disability.

　　It is estimated that the incidence of birth defects in my country is about 5.6%, and about 1 million new birth defects are added every year.

Among them, diseases with a prevalence rate of less than 1/500000 or a neonatal incidence rate of less than 1/10,000 are rare diseases.

In 2017, 50.6% of deaths among infants aged 1-11 months in my country were congenital malformations.

Birth defects seriously affect the quality of life of children, not only bring huge suffering and economic burden to children and families, but also a public health problem that seriously affects the level of social health and the quality of the population.

　　The Shanghai Health Promotion Center pointed out that most rare diseases can be effectively prevented. The main strategy is three-level prevention, one is pre-marital and pre-pregnancy screening; the second is prenatal screening and prenatal diagnosis; the third is newborn screening. check.

Among them, prenatal screening and prenatal diagnosis are particularly important.

　　Attachment: List of 14 member units of the Yangtze River Delta Rare Disease Laboratory Diagnosis Cooperation Center:

　　Huashan Hospital Affiliated to Fudan University

　　Children's Hospital of Fudan University

　　Ruijin Hospital, Shanghai Jiaotong University School of Medicine

　　Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine

　　Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine

　　Shanghai Children's Hospital

　　Shanghai Clinical Laboratory Center

　　Eastern Theater General Hospital

　　Maternal and Child Health Hospital of Nanjing City, Jiangsu Province

　　Second Affiliated Hospital of Zhejiang University School of Medicine

　　Children's Hospital of Zhejiang University School of Medicine

　　The First Affiliated Hospital of Anhui Medical University

　　The First Affiliated Hospital of University of Science and Technology of China

　　Anhui Children's Hospital