Abstract: Since rare diseases contribute to a heavy socio-economic burden globally, research into rare diseases will provide enormous social and scientific values. China has a large population, which provides abundant resources, as well as immense challenges, for studying rare diseases. Although advances in specific diseases have been made, lacking of research collaboration and imbalance in allocation of healthcare resources remain as significant challenges in China. With the growing attention towards rare diseases from the government, academic institutions, research societies, and individuals, it is anticipated that research of rare diseases in China will be under swift development with collaboration and innovation. Efforts in various aspects have been made nationally and globally to better meet the challenges of rare diseases.