The objective of the paper is to provide a broad overview of the evolving landscape of current knowledge on rare diseases, to outline challenges, and evaluate growth opportunities, all with an aim to further efforts in solving the problems that still plague the field. The novelty and merit of the article stem from the extensive, wide-ranging coverage of the most up-to-date scientific information accumulated in the CAS Content Collection, allowing unique, unmatched breadth of landscape analysis and in-depth insights. We hope this report can serve as a useful resource for understanding the current state of knowledge and the importance of raising awareness in the field of rare disease research and development.