Comments on research status and future of rare diseases in China / 中国热带医学

ABSTRACT

@#Rare diseases, also known as "orphan diseases", refer to diseases with very low incidence. Countries and regions define rare diseases according to epidemiological standards, economic standards of rare drugs and disease severity. The World Health Organization (WHO) has suggested the prevalence rate of less than 6.5 to 10 per 10 000 people to define rare diseases. In May 2018, "China's First List of Rare Diseases" was released, including 121 rare diseases. Most rare diseases are hereditary diseases with early onset, severe disease, and poor prognosis. About 75% of rare genetic diseases occur in the neonatal period or childhood, which are important part of human birth defects and brings a huge burden to society and families. The effective prevention and treatment of rare diseases is one of the important goals of building a "Healthy China". With the development of molecular biology technology and the continuous research and development of advanced medical products in the field of gene therapy, the level of clinical diagnosis and treatment of rare diseases has risen to a new level, which provides a possibility for the cure of some rare diseases. In China, most rare diseases rely on imported drugs, which cost a lot and bring heavy economic burden to patients. Improving the medical insurance system for rare diseases has become a difficult point in the current medical reform. This paper mainly discusses the definition of rare diseases, the research status, efforts and future development direction of rare diseases in China, in order to deepen the understanding and response of medical workers and the whole society to rare diseases.