Rare disease registration and research platform to be built within three years

Source: Science and technology daily September 11, 2017, "China plans to preliminarily complete the national rare disease registration system by 2020, and carry out more than 50 kinds of 50000 rare disease registration studies." At the 12th International Congress on rare diseases and orphan drugs and the 6th China rare diseases Summit Forum, Zhang Shuyang, vice president of Peking Union Medical College Hospital, said that this study will help to understand the precise clinical phenotype and natural evolution of diseases and lay the foundation for disease intervention research It is understood that there are 59 rare diseases in the first batch of selected systems, which are divided into 4 categories, including: cardiopulmonary and renal rare diseases, endocrine metabolism and blood system rare diseases, neuroskeletal and skin rare diseases and children rare diseases At present, there are about 7000 kinds of rare diseases recognized internationally, accounting for about 10% of human diseases About 80% of them are caused by gene defects In 2010, the Chinese medical association genetics branch called disease with a morbidity rate of less than 1 /500000 or a incidence rate of less than 1 /10000 of newborns as a rare disease With a population base of more than 1.3 billion, a special situation of rare diseases has emerged in China Dr Gong mengchun, executive director of the national rare diseases registration research system, hopes that the registration of rare diseases from the clinical perspective will be gradually incorporated into the system From the perspective of academic and clinical services, a huge referral, consultation and diagnosis consultation system will be laid nationwide Huang rufang, director of the center for the development of rare diseases, pointed out that since the number of patients with rare diseases is very small, the data and research of patients with rare diseases are very important in the whole process of research and drug development of rare diseases But for the registration of rare diseases, many patients are not very active and need to be re educated "I hope that all patients with rare diseases will actively participate in any scientific and active research and contribute their own data." "Rare diseases are a major common challenge facing mankind, and patients all over the world are facing a huge dilemma Lack of medicine, slow progress in scientific research, and high global policy barriers are core issues." Huang rufang pointed out that due to the common problems of less investment in scientific research, low diagnosis rate, lack of effective treatment means and drugs are often not in the medical insurance system, patients with rare diseases must face various dilemmas of "disease without medical treatment", "medicine without medical treatment" and "medicine without medical insurance" at birth