About

• WHO (2025): A rare disease is often described as a condition affecting fewer than 1 in 2,000 people. WHO does not present this as a universally binding definition.
• 7,000+ rare diseases are known globally, affecting 300+ million people and about 70% begin in childhood.
• Rare diseases are often chronic, progressive and multisystemic.
• India: National Policy for Rare Diseases 2021 states that there is no universal/standard definition and definitions vary by country.
• Major categories include genetic disorders, metabolic disorders, lysosomal storage disorders, muscular dystrophies and spinal muscular atrophy.
• Examples include: Duchenne Muscular Dystrophy (DMD), Spinal Muscular Atrophy (SMA), Gaucher Disease, Fabry Disease, Pompe Disease, Phenylketonuria (PKU), Huntington’s Disease, Hemophilia, Thalassemia, Sickle Cell Disease.

Indian Government Initiatives

• National Policy for Rare Diseases, 2021:India’s central policy, classifies rare diseases into 3 groups and promotes prevention, diagnosis, treatment and research.
• Centres of Excellence (CoEs): 12 notified institutions provide specialised diagnosis, prevention and treatment.
• Financial Assistance: Up to ₹50 lakh per patient for treatment at notified CoEs.
• Digital Crowdfunding Portal :Enables voluntary donations from individuals and corporates for patients, particularly where treatment costs are very high.
• UMMID (DBT): Establishes NIDAN Kendras for genetic diagnosis, counselling and screening of pregnant women/newborns.
• ICMR–NRROID: National Registry for Rare and Other Inherited Disorders; generates data for understanding disease burden and supporting research.
• NCRDTRD:National Consortium for Research and Development on Therapeutics for Rare Diseases to streamline research.
• Tax/customs support : Exemptions/reductions on customs duties and GST for certain imported rare-disease medicines.