What are rare diseases? How is the diagnosis made in rare diseases? How is the treatment process? February 28 is World Rare Disease Day!

Thursday, February 25, 2021 – 13:57 | Last Updated: 25 02 2021 – 13:57

Progeria, cystic fibrosis, escape syndrome, mucopolysaccharidosis and lysosomal storage diseases … You may be hearing these names for the first time! Even when the first diagnosis is made, a group of diseases that the hearer is surprised to think about is rare diseases. It has more than 7 thousand diseases and although its name is rare, the number of patients it actually covers is quite high. Head of Medical Genetics Department Prof. Dr. Uğur Özbek gave information about rare diseases due to 28 February World Rare Diseases Day.

Worldwide 300 million, 7 million people living in Turkey with various different rare diseases. The reason why it is called rare is that although there are more than 7 thousand varieties in total, its incidence is low compared to common diseases. For example, allergies are seen in one in every 5 babies, while hemophilia, which is a rare disease and causes bleeding tendency, is encountered once in every 10,000 babies.

The number of rare diseases is increasing day by day so that dozens of new diseases are added to this list every year. In order to raise awareness for these situations, it tries to attract the attention of the public with events special to the World Rare Diseases Awareness Day every year. Head of Medical Genetics Department Prof. Dr. Uğur Özbek, on the other hand, states that doing research on rare diseases has made new contributions to the scientific world and that significant success has been achieved in the diagnosis and treatment of patients.


Rare diseases, which describe diseases that are less common than one in two thousand people in the society, mostly affect children. Studies show that 75 percent of these diseases are seen in children. Moreover, one out of every 3 babies born with some life-threatening rare diseases that have not yet been cured dies before the age of one. Those living, on the other hand, have to struggle with chronic physical or cognitive disabilities. Drawing attention to the increasing rate of rare diseases, especially in countries where consanguineous marriages are common, Prof. Dr. Ugur Ozbek, “of rare diseases that are common in Turkey among the countries. The high rate of consanguineous marriage causes rare diseases to be more common than European countries and the USA. Because 80 percent of these diseases are caused by genetic reasons. 20 percent are thought to be caused by environmental and other factors or are not yet known. For this reason, the decrease in consanguineous marriage is of great importance in terms of preventing rare diseases ”.


The effects of these diseases affecting a significant part of the society can be at various levels. Noting that rare diseases can threaten the life of people or cause them to live with a chronic disability, Prof. Dr. “Most of the physical or mental disabilities that we encounter in daily life such as visual impairment, disproportionate short stature, hearing loss, and spasticity can be caused by a rare disease.” says.


Approximately 300 million people in the world live with health problems that are defined as ‘rare diseases’. The number of people who have to live with rare diseases affecting 6-8 percent of the society in proportion reaches 7 million in our country. Emphasizing that all these numbers require us to see rare diseases as the problem of millions, Özbek stated that the critical process started at the diagnosis stage and continues as follows:

“The first challenge for rare diseases starts at the diagnosis stage. It is known that the average diagnosis period of an individual with a rare disease is at least 4 years. Because the number of physicians with expertise and experience to diagnose such diseases is extremely low. The second problem we encounter when it comes to rare diseases is the treatment and follow-up phase. Since these diseases are defined in very few people all over the world, the number of physicians and healthcare professionals with experience in this field is also low. Even though patients can reach these rare physicians, this time they face the problem of high treatment and medication costs. “


Years of struggle and intense labor are required to develop and launch a drug. Emphasizing that producing drugs for rare diseases should be handled as a matter of dignity and ethics, Prof. Dr. Uğur Özbek said, “Demand for research, development and production of such drugs is low. For this reason, they are called ‘orphan medicine’. In terms of orphan drugs that are delivered to patients in our country, we are largely dependent on abroad. ” says.

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