Progress on research and development in diabetes mellitus.

Diabetes mellitus is a kind of metabolic disease characterized by hyperglycemia resulting from insulin insufficiency and insulin resistance. It has become one of the major diseases threatening human health. In this paper, we analyze the current R&D status of diabetes from the aspects of papers, patents, drugs and industrial development. The results show that scientific outcomes are increasing steadily and the hot topics are diabetic complications and epidemiological research. In terms of technology development, large pharmaceutical companies, such as Janssen Pharmaceutical, Lilly pharmaceutical, Boehringer Ingelheim, are actively engaged in diagnosis, treatment and management of diabetes. By March 23 2022, 207 drugs have been launched and a large number of candidate drugs are in the pre-clinical and clinical stage. In terms of industrial development, the potential diabetes market is huge and the digital management of diabetes is developing rapidly. China has certain strength in diabetes research and development. In the future, measures should be taken to strengthen the transformation of research outcomes, and promote product development to meet China's huge needs of diabetes cares.

Current status and future perspectives of rare disease research.

Rare diseases refer to diseases with low incidence. Currently, there are over 8000 rare diseases in the world. Effective prevention and treatment of rare diseases is an important part of 'healthy China'. In this paper, status and drug development of rare diseases were reported. These results indicate that research on rare diseases is growing rapidly driven by technology and policy. The hotspots include the identification of gene mutations, the development of therapies, and the key points of technology include the development of drugs for rare diseases, the development of viral vectors for gene therapy, and the diagnosis and management system for rare diseases. In terms of drug development, 880 drugs have been launched by December 28, 2020, and a large number of drugs are in the pre-clinical stage. Generally, a new technology or drug is applicable to various diseases. In the future, with policy support and the development of emerging technologies such as gene editing, more and more rare diseases will be diagnosed and intervened early, even be cured, and the quality of life of patients is expected to be improved.

Progress on familial hypercholesterolemia.

Familial hypercholesterolemia (FH) is an autosomal inherited disease characterized by a significant increase in low density lipoprotein cholesterol (LDL-C), tendon xanthoma and premature coronary artery disease (PCAD). In this paper, we analyze the current research status of FH, summarize the reported mutation gene loci in Chinese FH patients and treatment for them, and elaborate the current status of patents and drug researches. The results show that scientific outcomes of FH are increasing with a good developmental trend and the most popular topics of FH study are pathogenesis, treatment of FH, and research on juvenile FH patients. In terms of patents, large pharmaceutical companies, such as Regeneron Pharmaceuticals Inc, AstraZeneca Plc, Merck & Co Inc, are actively engaged in FH detection, diagnosis and treatment. In addition, 12 drugs have been launched in the United States, Japan, Europe and other countries or regions, bringing hope to FH patients.