Retrospective on Establishing Rare Diseases Medical Service System and Research Platform in China / 罕见病研究

Rare diseases refer to diseases characterized by very low prevalence rate but causing serious public health problem in the society. The diagnosis and treatment of the diseases pose great challenges.During the period of 13th Five-Year, China has accelerated the pace in all aspects targeting on policy support and scientific research in the rare diseases and on patients having the diseases. The efforts include establishing the cataglog for rare disease, introducing a series of policies to accelerate the R & D of drugs, upgrading the standardization of the diagnosis and treatment competences and so forth. In addtion, the establishment of National Rare Diseases Registry System(NRDRS) has been instrumental in knowing the burden of the diseases and enhancing the scientific research to rare diseases.

Introduction to national occupational radiation disease reporting system / 中华放射医学与防护杂志

Objective To establish the national occupational radiation disease reporting system and learn about the incidence of occupational radiation sickness in radiation workers. Methods In accordance with the relevant regulations, standards and literatures available in China, the system was designed and implemented to survey the requirements of diagnosis institutions of occupational radiation sickness and administrative departments. Results The system was initially established with expectant functions. The system functional modules consisted of case reporting, case information enquiry, statistical analysis and system management. The diagnosis institutions of occupational radiation sickness had used the system to report the cases diagnosed in 2017. Conclusions The system achieved the standardized case reporting for the institutions of occupational radiation sickness, and provided scientific data for the health surveillance of radiation workers and decisions of governments.

Introduction to national occupational radiation disease reporting system / 中华放射医学与防护杂志

Objective@#To establish the national occupational radiation disease reporting system and learn about the incidence of occupational radiation sickness in radiation workers.@*Methods@#In accordance with the relevant regulations, standards and literatures available in China, the system was designed and implemented to survey the requirements of diagnosis institutions of occupational radiation sickness and administrative departments.@*Results@#The system was initially established with expectant functions. The system functional modules consisted of case reporting, case information enquiry, statistical analysis and system management. The diagnosis institutions of occupational radiation sickness had used the system to report the cases diagnosed in 2017.@*Conclusions@#The system achieved the standardized case reporting for the institutions of occupational radiation sickness, and provided scientific data for the health surveillance of radiation workers and decisions of governments.

Rare disease research and orphan drug discovery / 国际药学研究杂志

Rare diseases are the major challenges we face today and the difficulties in the treatments mainly lie in the shortage of orphan drugs. The growing awareness of the need for pharmaceutical products means the orphan drug market has great commercial potential. Currently, multiple international organizations cooperate to reduce the redundancies and the administrative load in submitting applications for orphan drug designation, aiming to accelerate the global legislation of the orphan drugs. In China, a nation-wide registry system, the National Rare Diseases Registry System of China(NRDRS), and the cohort study based on the registry system will greatly facilitate both the rare disease research and the following clinical trials of orphan drugs. The study of the rare disease pathogenic mechanisms will benefit the development of orphan drugs, especially in gene therapy and enzyme replacement treatment, the targets of which largely depend on the understanding of the disease pathogenesis. It will not only advocate the repurposing of the common drugs, so as to be approved as orphan drugs, but also expand the scope of the common drug targets, solving the inherent problems. Furthermore, though the efficacy and safety of orphan drugs may be verified by clinical trials, the underlying mechanism can only be explained with the help of the study of the rare diseases. Besides, thanks to the superiority of the marketing and legislation of the orphan drugs, many medicines may be approved as orphan drugs at the very beginning, but with the expansion of the indications, they may turn out to be effective in various common diseases. Therefore, orphan drugs are also beneficial to the development of the overall pharmaceutical industry. In the era of the precision medicine, the set up of the NRDRS of China will help clarify the correlation between the phenotype and the genotype, strongly assist the industrial delivery of orphan drugs, and may eventually lead to the enhancement of the pharmaceutical industry in China.