Despite occurrence over a small percentage of the population, rare diseases are often chronic and life-threatening. Around five new rare diseases are described in medical literature every week. Attention to the special challenges faced by these patients has been sought internationally by an annual Rare Disease Day on the last day of each February.

In view of the elevating awareness and concern over the management of these diseases, Annals of Translational Medicine now opens new grounds for the studies of rare diseases. Any articles that encourage new understanding, solid theory, debate, controversy and reflection on any kind of rare diseases are welcome.