"Rare Diseases Day" meeting organized in cooperation with Hacettepe University Genomics and Rare Diseases Application and Research Center (HÜGEN) and Turkish Health Institutes Presidency (TÜSEB); Our Rector Prof. Dr. Mehmet Cahit Güran, Vice Rector Prof. Dr. Serhat Ünal, HÜGEN Director Prof. Dr. Fatih Özaltın and Deputy Director Prof. Dr. Nurten Akarsu, TÜSEB Vice President Prof. Dr. Rabia Çakır Koç, TÜSEB Türkiye Health Services Quality and Accreditation Institute President Prof. Dr. Figen Çizmeci Şenel, TÜSEB Project Management and Support Department Head Batuhan Yeşilyurt, Ministry of Health DGCA Autism, Mental Special Needs and Rare Diseases Department, Rare Diseases Unit Supervisor, Specialist. Dr. Murat Gülşen, Social Security Institution General Health Insurance General Manager Assoc. Dr. Eren Usul, our university's academic, administrative staff and students attended.
Making the opening speech, Prof. Dr. Fatih Özaltın stated that diseases that occur less frequently in 5 out of 10 thousand people in society are called rare diseases and that there are approximately 8 thousand different diseases defined as rare diseases and said:
“Rare diseases affect at least 400 million people worldwide and approximately 7 million people in our country. From a healthcare perspective, rare diseases are an important public health problem due to the lack of effective treatments. According to TÜİK 2022 data, the rate of consanguineous marriages in the last marriage among total official marriages is 8.3 percent. When consanguineous marriages among total official marriages are examined by province, the province with the highest proportion of individuals aged 16 and over who had consanguineous marriages in their last marriage among total married individuals in 2022 is Mardin with 20 percent, followed by Şanlıurfa with 18.6 percent, Siirt and Diyarbakır with 16.9 percent. The province with the lowest rate of consanguineous marriages is Edirne with 1.1 percent, followed by Kırklareli with 1.5 percent and Çanakkale with 2 percent. Rare diseases are common in societies where consanguineous marriages are common. For this reason, it has a special importance for Türkiye. “
At the meeting, our Rector Prof. Dr. Mehmet Cahit Güran also made a speech and said that HÜGEN has been the owner of the rare diseases issue for many years, and from now on, the most powerful owner of this issue in our country will be HÜGEN under the roof of Hacettepe University. Thanking everyone who contributed, Prof. Dr. Güran continued his speech as follows:
“The incidence of rare diseases in Turkey is higher than the rate in the world. Therefore, it is a very critical issue for Türkiye. When the total number of patients and rare disease types are evaluated, there is an average of 200 patients per disease. We are talking about a set of diseases that vary in frequency. Therefore, it is a very important issue worth establishing strategies on, both nationally and internationally. Moreover, it is an issue that the industry, private sector and commercial organizations do not attach much importance to. Because due to its frequency of occurrence, a commercial potential is not possible. Therefore it is derelict. Unfortunately, it does not seem possible for these sectors to solve, manage and contribute to this issue. There is only one alternative left, and that is the state. If many public institutions, such as our state, and many states embrace this issue, 400 million people, or 7 million people in Turkey, can have the opportunity to participate in social life in a healthy way and live a more prosperous life. As a state university, we have been and will continue to be one of the most important owners of this subject.“
TÜSEB Vice President Prof. Dr. Rabia Çakır Koç stated in her speech that TÜSEB is in constant scientific cooperation with Hacettepe, important steps were taken together during the pandemic period and they saw many benefits of this cooperation. Reminding that the Turkey National Genome and Bioinformatics Project has been initiated and its infrastructure has been established, Koç expressed the importance of rare diseases in this project and his expectations from Hacettepe in this regard.
Following the opening speeches, the meeting continued with the following: "The Importance of Individualized Treatment in Rare Diseases: Saving the Patient", "Rare Diseases in Terms of National Health Policies", "Rare Diseases National Health Strategy and Action Plan", "Access to Treatment in Rare Diseases", "Establishment of Centers of Excellence in the Field of Rare Diseases". Studies" continued with panels titled "TÜSEB R&D Support Strategies and Project Calls in the Field of Rare Diseases".
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