With the development of the diagnosis and treatment for rare diseases and the promotion of the construction of ′Double First-Class′ Universities in China, the libraries of medical schools have to make full use of their strengths to better face new challenges in discipline construction proactively. This article refers to resource and information service practices related to the rare disease carried out by medical libraries in China and in other countries; explores the possibilities of building up the resource and information in the future, aiming at improving the awareness of rare diseases among medical students, researchers, and the general public. The article also focuses on the need for strengthening the support for teaching and research into rare diseases, hoping to contribute to the overall improvement of the diagnosis, treatment, and educational research in rare diseases in China.