Rare Diseases
New treatments, research and health policy from around the world and from Türkiye. Each with its source and level of evidence.
13 updates
EUHealth policy
The European Parliament's Public Health Committee adopted, with 33 votes, a report calling on the European Commission to draw up an action plan for rare diseases.
GlobalHealth policy
The International Pediatric Nephrology Association published its recommendations for diagnosing and treating atypical HUS in children.
GlobalHealth policy
An international expert meeting prepared joint recommendations for eye problems in incontinentia pigmenti.
EUHealth policy
The 13th European Conference on Rare Diseases and Orphan Products (ECRD), held in Prague on June 3–4, 2026, came together in calling for a coordinated EU-wide action plan.
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.
GlobalHealth policy
Rare Disease Day on February 28, 2026, was marked under the theme 'More than you can imagine', coordinated by EURORDIS.
USAHealth policy
Writing in NEJM, FDA leaders described an approval pathway called the 'plausible mechanism' pathway for individualized therapies for which randomized trials cannot be conducted.
TürkiyeHealth policy
Health Minister Kemal Memişoğlu announced that the synthesis of the active ingredient nusinersen has been completed.
USAHealth policy
The US Food and Drug Administration (FDA) announced 'Rare Disease Evidence Principles' for genetic diseases that generally have fewer than 1,000 patients in the USA.
United KingdomHealth policy
The English government's 10-year health plan aims, in the long term, to offer genome sequencing at birth to everyone.
TürkiyeHealth policy
The Takayasu working group of the Turkish Society for Rheumatology published the first national recommendations.
GlobalHealth policy
The 78th World Health Assembly, led by Egypt and Spain, adopted the first resolution recognizing rare diseases as a global health priority.
TürkiyeHealth policy
The Ministry of Health will increase the number of treatment and research centers for rare diseases.