Background In recent years, rare diseases have become a major public health issue. There is an urgent need to improve the diagnosis and treatment for these diseases, and the training for doctors engaged in rare diseases is an important part of it.

Methods This study conducted a questionnaire survey on the doctors engaged in rare diseases in Peking Union Medical College Hospital to better understand their characteristics and evaluate their psychological and working status.

Results A total of 95 questionnaires from doctors engaged in rare diseases were collected in this study, among which the female∶male ratio was 1.6∶1, and 63.2% of them were in the 40-54 age group. Their main reason for choosing rare diseases was the enjoyment in the process of studying rare diseases (64.2%). Compared with the 108 doctors not engaged in rare diseases surveyed during the same period, those working on rare diseases reported higher patient recognition based on self-evaluation(P < 0.001). In terms of the time-consuming work, in addition to routine medical work, teaching and research, 34.7% of doctors engaged in rare diseases chose doctor-patient communication and 31.6% chose medical management communication.

Conclusions This study proposes some suggestions on the talent training for rare diseases, the establishment of continuing education platforms, and the technology and policy support needed through the analysis of the questionnaire survey results of doctors engaged in rare diseases.