The Rare Diseases Application and Research Center was established within Ankara University (AU) to develop drugs, diagnostic kits and innovative approaches related to rare diseases, to establish a biobank, to draw a geographical map of diseases and to define treatment models.
In a statement to an AA reporter, Dr. Fatma Tuba Eminoğlu, head of the center and a lecturer at the Ankara University School of Medicine Faculty of Medicine said that rare diseases are defined as those with a high risk of disability and death, and with an incidence rate of 2000 or fewer.
Eminoğlu said that nearly 8,000 rare diseases had been identified to date, approximately 80 percent of which are transmitted through the genes and 65–70 percent occur during childhood.
Eminoğlu pointed out that although the incidence of rare diseases in society seems low when considered individually, they actually represent a significant public health problem when considered together. She went on to say, “As the frequency of consanguineous marriages is higher than in other countries, and the majority of rare diseases are transmitted in a genetically recessive form, these diseases are more common in our country.”
She said that around 450 million people around the world and 5.5–6 million people in Türkiye are estimated to carry rare diseases, and that the introduction of advanced screening methods in the field of medicine, population growth, the development of health care services and the increase in life expectancy have led to an increase both in the number of people with rare diseases and the number of diseases identified.
She stressed that there are many unmet needs with regard to rare diseases, from diagnosis to treatment, but that studies had been conducted in recent years to better understand such conditions, and to improve their diagnosis and monitoring all over the world, adding that new drugs were emerging every day for the treatment of such diseases.
Eminoğlu noted that the vast majority of these drugs are biotechnological and innovative products defined as techniques and processes used for understanding and changing the functions observed in human, plant and animal cells.
“We have become one of the leading universities”
She identified the lack of information on the cause of most rare diseases as the main factor complicating diagnosis and treatment, and said, “The level of awareness of rare diseases in Türkiye has increased both in the eyes of the public and in public institutions and organizations, although the idea of formulating policies to develop patient-oriented and long-term solutions has been implemented and the necessary steps have been taken.”
Eminoğlu stated that many treatment methods such as “gene therapy” had been developed for the treatment of such disorders in recent years and that the number of drug researches is increasing.
Eminoğlu reminded that a “2023–2028 Rare Diseases Health Strategy Document and Action Plan” had been drawn up under the aegis of the Autism, Mental Special Needs and Rare Diseases Department under the Ministry of Health with the contribution of all relevant stakeholders, adding that short-medium and long-term national targets had been identified in that regard.
She stated that they continue to closely follow the developments related to rare diseases while taking steps to develop new applications, adding, “We have become one of the pioneering universities in the establishment of centers of excellence, and have assigned the necessary physical spaces and resources to carry out projects and to achieve goals in the field of clinical research.”
Prof. Dr. Eminoğlu said that they had established the Rare Diseases Application and Research Center as a center of excellence where research into such diseases could be carried out, stating that it would be opened soon.
Eminoğlu underscored that studies into the diagnosis and treatment of rare diseases are being carried out in centers of excellence that provide leadership, research, development, support or training opportunities in the appropriate fields.
Emphasizing that only a few centers exist that provide services for the treatment of rare diseases in Türkiye, and that R&D investments in this field had not yet reached the desired level, Eminoğlu said:
“The importance of the centers of excellence has been emphasized also in the Rare Diseases National Strategy Document and Action Plan. In Türkiye, however, there was no full-service center of excellence operating in the field of rare diseases, and so to fill this gap, we committed to the establishment of a center of excellence for the study of rare diseases by the Ankara University Rare Diseases Application and Research Center, based on a multidisciplinary healthcare approach.
In the Rare Diseases Application and Research Center that will soon be inaugurated, strategies will be developed for the prevention of diseases, scientific research will be carried out into the incidence and spread of diseases, and effective screening processes will be devised. To support the monitoring of rare diseases, geographical maps will be drawn up and projects will be prepared to support the establishment of a national registry system. Furthermore, strategies will be devised and recommendations will be made for prenatal and newborn screening, kits and innovative approaches to the diagnosis and follow-of rare diseases up will be developed, and diagnostic algorithms will be established. In addition, a biobank will be set up, treatment models will be defined and treatment guidelines will be prepared.
“Genetic studies will be conducted”
Eminoğlu said that physical spaces had been created for the necessary phase studies of new treatment approaches and for the provision of gene and stem cell treatments to selected patients, and that the center will operate within a 3-story detached building with a physical area of 1000 square meters on the Cebeci Campus of the university.
Eminoğlu said, “Regarding the physical infrastructure, the Phase-1 research center comprises laboratory complexes that are equipped to carry out advanced biochemical studies and genetic research, while the diagnosis and treatment of rare diseases will be carried out simultaneously by experienced academicians and health personnel.”
Eminoğlu concluded that the necessary scientists and expert health personnel for the center would be educated in their respective fields, and that doctoral and graduate programs would be established, along with certification programs, training seminars, workshops and scientific activities, supported by activities aimed at raising awareness of rare diseases through different media channels.