The RDDC has been acclaimed within the scientific and medical community over the first year of its operation, prompting an influx of insightful feedback from professionals. Leveraging these valuable suggestions, we have enacted a series of iterative upgrades, culminating in the release of RDDC 2.0 on July 1, 2023. This enhanced version offers optimized data presentation and interaction capabilities, honing our ability to cater to the sophisticated requirements of data querying and mining in scientific research. As its cornerstone, RDDC persists in its concentration on gene and genetic-related data, committed to exploiting the vast potential of genetic big data for the advancement of bio-artificial intelligence tools.

In the current landscape, where China lacks a public database specifically catering to rare diseases and existing international disease databases fail to adequately visualize data associated with rare diseases, RDDC steps forward to bridge this critical gap. We strive to facilitate swift, intuitive comprehension of rare diseases for healthcare practitioners, academic researchers, and the families affected by rare diseases, employing extensive data visualization without compromising the integrity of the original data, and expediting the filtration of targeted information through an advanced tagging and categorization system, presently under development. Furthermore, RDDC serves as a nexus for domestic rare disease resources, thereby solidifying a robust data foundation indispensable for progressing rare disease research in China.

In China, due to the large population, nearly 20 million individuals are affected by rare diseases. In 2018, to boost rare disease diagnosis and treatment, China's National Health Commission, the Ministry of Science and Technology, the Ministry of Industry and Information Technology, the Food and Drug Administration, and the Administration of Traditional Chinese Medicine issued the "First Batch of Rare Disease Catalogues." This list includes a total of 121 rare diseases, such as hereditary nephritis (i.e., Alport syndrome), ALS (amyotrophic lateral sclerosis), hemophilia, etc. However, due to the lack of effective animal models for most rare diseases and the small patient population, investment in rare disease research and development is relatively low.

In the realm of rare disease information integration, China launched a rare disease registration system led by Peking Union Medical College Hospital in collaboration with several renowned hospitals nationwide in 2020. Additionally, the U.S.'s NIH and Europe's NORD have made significant contributions, with many rare disease-related non-profit organizations also taking proactive measures. Currently, rare disease information primarily focuses on clinical trials and basic disease data, while the crucial preclinical disease model information is not well-structured. Moreover, databases like MGI, which centers on the mouse model, focus on mouse model phenotypic arrangement, but lack a close integration with clinical information. Orphanet, a database primarily built on structured rare disease epidemiology and standardized naming information, still stores data in packets, limiting efficient display.

Considering the current "island-style" research status of rare diseases and the increasing popularity of rare disease research, propelled by the development of gene editing technology, modern rare disease databases require not only high-quality data but also enhanced database content display. With AI playing an increasingly significant role in life sciences, such as small molecule drug discovery, macromolecular structure prediction, and pathological image recognition, using AI to predict genetic mutation-induced rare diseases and devise therapeutic viral vectors will likely become major breakthroughs in the broader health field. The establishment of RDDC aims to provide a one-stop, interactive visualization platform - "disease - gene - animal model - AI tool" - for patients, physicians, and researchers, ultimately aiding everyone committed to rare disease treatment or research to the greatest extent possible.