The achievements in the last two decades in the diagnosis, management and research on rare diseases have been unprecedented. The advancing studies of rare diseases toward genetic causes and effective therapies have been progressing rapidly. Policies and guidelines concerning rare diseases have been issued in different regions and countries. Life quality of patients with rare diseases has been improving with such advances internationally. Increases in research funding support have been providing more and more coordination in different disciplines/areas of management to provide the forming of best practice.