Rare diseases: Orphan diseases of medicine

Vice Dean of Cyprus International University (CIU) Faculty of Medicine Assoc. Prof. Dr. Kerem Teralı pointed out the importance of rare diseases, and stated that there are more than 6 thousand rare diseases today and that there are 30 million people affected by rare diseases in Europe alone.
Teralı noted that the European Medicines Agency, the drug regulatory agency of the European Union, defines a certain disease as 'rare' when it affects fewer than 1 in 2,000 people, and added: "Although there are currently over 6 thousand rare diseases, this number increases on a regular basis thanks to new studies in medicine."
Teralı stated that the incidence of rare diseases, most of which are of genetic origin, is low and shared the information that medical expertise in this field is not only lacking but there is also knowledge deficit, insufficient care services and limited scientific research.
Stating that despite the total number of individuals affected by rare diseases are known, they are labeled  as the orphans of the healthcare system, Teralı underlined that these individuals are often deprived of the benefits of diagnosis, treatment and R&D.
Teralı emphasized that drugs developed for the treatment of rare diseases are also called 'orphan drugs' and said that the number of such drugs approved for use in the EU is sufficient to treat only 3% or 4% of all rare diseases.
Pointing out that common clinical symptoms hide the underlying rare disease, causing misdiagnosis and delayed treatment, Teralı pointed out that rare diseases are sometimes referred to as diseases that cause patients to go from one doctor to another.
Teralı stated that, as CIU Faculty of Medicine, they cooperate with individual researchers and large centers working on rare diseases in Turkey, and that this cooperation not only makes it possible for CIU to receive clinical support from Turkey but also allows them to transfer their knowledge and skills in the field of basic sciences to their counterparts in Turkey.
Pointing out that there are people in Northern Cyprus who are trying to survive due to rare diseases they have, Teralı noted that this situation makes it urgent and important to establish sustainable national health policies in the country.