Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
12 updates
TürkiyeResearch and clinical trials
In Diyarbakır, Bundgaard syndrome, an inherited heart rhythm disorder, was identified in a 41-year-old patient who sought care for dizziness and chest pain.
TürkiyeResearch and clinical trials
A patient diagnosed with severe hemophilia B received gene therapy at Gaziantep University Hospital.
TürkiyeSGK and reimbursement
On April 8, 2026, a drug that prevents attacks in hereditary angioedema was added to SGK (Social Security Institution) reimbursement coverage.
TürkiyeHealth policy
Prof. Dr. Hacer Durmuş Tekçe of the Turkish Neurological Society said that at least 5 million people in Türkiye are affected by rare diseases and that diagnosis can be delayed by 5–8 years.
TürkiyeResearch and clinical trials
In the RareBoost project in İzmir, 70 patients were diagnosed in about 2.5 years.
TürkiyeResearch and clinical trials
The 9th Hematologic Rare Diseases Congress brought together about 300 scientists.
TürkiyeSGK and reimbursement
On January 17, 2026, migalastat, used in Fabry disease, was added to the SGK (Social Security Institution) reimbursement list.
TürkiyeResearch and clinical trials
In Istanbul, a 28-year-old patient received a stem cell transplant and recovered.
TürkiyeHealth policy
Health Minister Kemal Memişoğlu announced that the synthesis of the active ingredient nusinersen has been completed.
TürkiyeSGK and reimbursement
Minister Işıkhan announced that 54.4 billion lira was allocated for rare disease treatments in 2024.
TürkiyeResearch and clinical trials
According to the Federation of Hemophilia Associations, 46 hemophilia patients in Türkiye received gene therapy in clinical trials.
TürkiyeResearch and clinical trials
Two gene therapy clinical trials are being carried out at Gazi University.