Prof. Yasemin Alanay Highlights Rare Disease Day on TRT Radio 1

Haber tarihi: 10/03/2026

Last update date: 10.03.2026

Prof. Yasemin Alanay, Director of the Rare Diseases and Orphan Drugs Application and Research Center (ACURARE) at Acıbadem University, was a guest on the TRT Radio 1 program “Voices Without Barriers” (Engelsiz Sesler), hosted by Deniz Peköz, as part of Rare Disease Day on February 28. During the program, rare genetic diseases observed in children and the importance of early diagnosis were discussed. It was emphasized that children’s development should be regularly monitored across several domains, including physical, cognitive, social-emotional, and language development, and that differences observed in developmental milestones may in some cases represent early signs of genetic or rare diseases. Rare diseases were described as conditions affecting fewer than 1 in 2,000 individuals in the population. It was also noted that more than 7,000 rare diseases have been identified worldwide, the majority of which have a genetic origin. Early diagnosis was highlighted as playing a crucial role both in disease management and in helping families plan future healthcare decisions.

The program also addressed the importance of solidarity among patients and families affected by rare diseases. In Türkiye, associations representing different disease groups come together under the umbrella of the Rare Diseases Federation (Nadir Hastalıklar Federasyonu) to carry out awareness and advocacy activities. It was further noted that despite advances in genetic evaluation, a significant proportion of individuals suspected of having rare diseases still do not receive a definitive diagnosis. In this context, the importance of Undiagnosed Diseases Programs developed for these patients was emphasized. Multidisciplinary evaluation processes carried out at Acıbadem University contribute to the re-assessment of undiagnosed patients and support the advancement of research in the field of rare diseases.