Rare Diseases Affect 5 Million People in Turkey

At least 5 million people in Turkey live with rare diseases, posing a significant challenge to the public healthcare system, according to medical experts.

Dr. Hadjer Durmuş Tekçe, board member of the Turkish Neurological Association, noted that by European Union standards—where a disease is considered rare if it affects fewer than 1 in 2,000 people—Turkey has over 5 million patients with such conditions.

Global Context

Globally, more than 300 million people suffer from over 8,000 identified rare diseases, 80% of which are genetic, chronic, and often manifest in childhood.

Diagnosis Challenges

Diagnosis can take 5–8 years due to limited awareness and clinical complexity. While advanced screening programs, including tests for spinal muscular atrophy, have improved early detection, effective treatments remain unavailable for many conditions.

⚠️ Critical Impact: As a result, 7 in 10 patients and caregivers are forced to leave the workforce due to the burden of rare diseases.

Key Statistics

🇹🇷 Turkey: 5+ million rare disease patients
🌍 Global: 300+ million affected worldwide
🧬 Identified diseases: 8,000+ rare conditions
🔬 Genetic origin: 80% are genetic
⏱️ Diagnosis time: 5-8 years average
💼 Workforce impact: 70% of patients/caregivers leave jobs

EU Definition Standard

By European Union standards, a disease is considered rare if it affects fewer than 1 in 2,000 people. Applying this definition to Turkey's population of approximately 85 million reveals the scale of the challenge facing the healthcare system.

🏥 Healthcare Challenge: While screening programs for conditions like spinal muscular atrophy have improved early detection, treatment gaps remain significant, leaving many patients without effective therapeutic options.

Turkish Neurological Association | March 2026

Rare Diseases Affect 5 Million People in Turkey