There are both medical and scientific knowledge gaps in the field of Rare Diseases. Until recently, there was no comprehensive research or health policy on these issues, as physicians, scientists, and policymakers have long been unaware of Rare Diseases. For most Rare Diseases, there is no cure, but appropriate treatment and medical care can improve the quality of life and prolong life expectancy. Striking progress in some diseases indicates the need to continue efforts in research and social solidarity.

Almost all patients face difficulties not only due to the prolonged diagnostic process caused by the rarity of the disease but also in terms of being directed to knowledgeable and experienced specialists. Issues related to access to quality healthcare, social and medical support, effective communication among hospitals, and general practices are experienced.

Patients affected by Rare Diseases are also psychologically, socially, economically and culturally vulnerable. It is clear that with appropriate policies, these challenges can be overcome.