Genetic experts met in Üsküdar for rare diseases

The 'Rare Diseases Summit' was organized in cooperation with the Rare Diseases Club (ÜÜRARE), operating within the Department of Health, Culture and Sports (HCS) of Üsküdar University, and the Rare Autoimmune Rheumatic Diseases Solidarity Association (FAROMDER). The summit addressed the scientific, clinical, and social dimensions of genetically based diseases. The mechanisms of hereditary diseases, the relationship of genetic mutations with rare diseases, and the importance of genetic diagnostic methods were discussed at the summit. Furthermore, the challenges in diagnosing rare diseases, the risks of misdiagnosis due to similar symptoms, and the necessity of a multidisciplinary treatment approach were emphasized.

The summit, held at Üsküdar University Main Campus Nermin Tarhan Conference Hall, was attended by; Üsküdar University Rector's Advisor Prof. Muhsin Konuk, Marmara University Faculty Member and Geneticist Prof. Korkut Ulucan, İstanbul University Cerrahpaşa Pediatric Rheumatology Specialist Prof. Kenan Barut, Rare Individual with Achondroplasia and President of the Achondroplasia Association Aynur Yıldırım, İstanbul University Cerrahpaşa Adult Rheumatology Specialist Prof. Serdal Uğurlu, Rare Individual with Dandy-Walker Syndrome Hamza Karatana, Nurse Dilşen Çevirgen from İstanbul Cerrahpaşa Faculty of Medicine, Rheumatology Polyclinic, and FAROMDER Association Treasurer Ceyhan Cerman.

Prof. Muhsin Konuk: “The risk is a thousand times higher in close-kin marriages!”

Üsküdar University Rector's Advisor, ÜÜRARE Club President Prof. Muhsin Konuk, delivered the opening speech of the summit. Konuk said; “When we were receiving genetic education in 1984, the most fundamental responsibility we were taught was to enlighten society and create strong awareness against consanguineous marriages. Scientific data paints a clear picture for us. The risk of hereditary diseases emerging in close-kin marriages is a thousand times higher. When we compare rare disease rates globally with the figures in our country, we see that the situation here is almost twice as severe. Unfortunately, our cultural habits lie at the root of this situation. Especially in isolated settlements, the narrowing of the gene pool exacerbates this risk. To give an example from my own village, in a town that originated from a single family 250 years ago and has now reached a population of 3,000, everyone is actually directly related to each other. When I visit, strangers calling me 'uncle' or 'maternal uncle' is actually a reflection of that genetic bond in social memory. Our primary duty is to enrich this gene pool and steer our society away from the risk of close-kin marriage. This is a societal problem, and its solution is only possible through collective effort, led by those of us who have studied this science. For a conscious society and healthy generations, we must advocate for genetic diversity and spread this awareness to all segments of society.”

Hanife Bayraktar: “The real challenge lies in unknown cases”

Rare Diseases Club President Hanife Bayraktar delivered the opening speech at the summit. Bayraktar said; “Today, as we talk about rare diseases, we actually need to see with numbers how widespread this condition is, contrary to its name. Globally, over 350 million people are battling a rare disease. In our country, this number ranges between 5 and 7 million. So, what we call 'rare' is actually a common reality for millions of lives. There are over 8,000 types of rare diseases defined in medical literature. However, the real challenge lies in unknown cases. Thousands of individuals whose symptoms are confused with other diseases or who show similar symptoms and thus cannot be diagnosed are fighting uncertainty in the diagnostic process. This situation is not only a health problem but also a great struggle against time in the path to reaching a correct diagnosis.”
Following the opening speeches, the summit continued with presentations by experts in their fields.

Prof. Korkut Ulucan explained genetics and gene therapy in rare diseases

Marmara University faculty member, Geneticist Prof. Korkut Ulucan, delivered his presentation titled “The Importance of Genetic Tests in Rare Diseases.” Ulucan stated that advancements in genetics and epigenetics offer new possibilities in the diagnosis and treatment of rare diseases. Explaining that diseases can be evaluated more holistically thanks to increasing data and technological infrastructure, Ulucan emphasized that gene therapy methods, especially CRISPR gene editing, could play a significant role in the future.

Familial Mediterranean Fever can be managed with awareness

İstanbul University Cerrahpaşa Pediatric Rheumatology Specialist Prof. Kenan Barut, made his presentation titled “Familial Mediterranean Fever: Managing Without Fear, With Awareness.” In his presentation, Barut drew attention to the importance of genetic and clinical findings in the diagnosis and management of Familial Mediterranean Fever (FMF) and rare autoinflammatory diseases. Barut stated that FMF is particularly common in certain regions and ethnic groups in Türkiye, emphasizing that both genetic tests and long-term clinical observation are critical in diagnosis and follow-up processes. He also stated that epigenetic factors such as environmental factors, nutrition, and microbiota can alter the course of the disease, and that patients' responses to treatment are shaped by these factors in addition to their genetic background.

Solidarity and treatment together in Achondroplasia…

Aynur Yıldırım, President of the Achondroplasia Association and a rare individual with Achondroplasia, shared her presentation titled “Achondroplasia from the Perspective of a Rare Individual” with the participants. Yıldırım stated that as an association, they have established an important support network for achondroplasia patients and their families in Türkiye, and shared details about the informational activities they conduct within the association. She also explained that the association organizes events, trips, and social activities that support children's self-confidence.

Prof. Serdal Uğurlu emphasized that awareness is critical in rare diseases

İstanbul University Cerrahpaşa Adult Rheumatology Specialist Prof. Serdal Uğurlu, spoke on “The Role of Rheumatology in the Diagnosis and Management of Rare Diseases.” Drawing attention to the importance of rheumatology in the diagnosis and management of rare diseases, Uğurlu emphasized that early awareness is critical, especially in autoinflammatory and genetic mutation-related diseases. Uğurlu touched upon the role of patient associations in Türkiye, stating that approximately 25 percent of cases remain undiagnosed, and the diagnostic process is prolonged due to the similarity of symptoms with common diseases.

Rarity requires conscious steps

Hamza Karatana, a rare individual with Dandy-Walker syndrome, delivered his speech titled “Dandy-Walker Syndrome from the Perspective of an Ultra-Rare Individual.” Sharing his rare disease experience that shaped his life, Karatana stated that the syndrome occurs in one out of every 30,000 births and explained that even small steps in daily life are a great struggle for him. He emphasized that despite the hearing, visual, and balance difficulties brought by the syndrome, he is patient, detail-oriented, and persistent. Karatana also conveyed to the participants that the right direction in life is not always the path followed by the crowd.

How targeted drugs are used in rare diseases was explained

Dilşen Çevirgen, Nurse at İstanbul University Cerrahpaşa Faculty of Medicine, Rheumatology Polyclinic, delivered her speech titled “Use of Immunological Targeted Drugs in Rare Diseases.” Çevirgen stated that rare rheumatological diseases affect organs and reduce quality of life. She emphasized that biological agents play a critical role in treatment, and that correct storage, administration, and injection rotation of medications are important. Furthermore, she conveyed that pre-treatment anamnesis, vaccine follow-up, infection risk control, a multidisciplinary approach, and patient education are vital for treatment success.

Thanks to those who shared their rare disease journey

Speaking at the closing of the summit, FAROMDER Association Treasurer Ceyhan Cerman thanked all stakeholders in the rare disease journey, the speakers, and the audience who participated in the summit.

Following the scientific presentations, certificates were presented to the speakers.

After a drawing among the participants, the summit concluded with a group photo.

Reporter: Baran Demir