Context:
The World is observing Rare Disease Day 2025 on 28th February.
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- It marks the 18th annual global event raising awareness for over 300 million people affected by rare diseases.
- The theme for the Day 2025 is “More than you can imagine; an anthology of rare experiences”.
Rare Disease Day
- It is observed every year on the last day of February, so generally on 28th February (or 29th February in leap years).
- It was established and is coordinated by the European Organisation for Rare Diseases (EURORDIS) in partnership with over 70 national alliance patient organisations.
- Since its creation in 2008, Rare Disease Day has played a crucial role in building an international rare disease community—multi-disease, global, and diverse, yet united in purpose.
What is a Rare Disease?
The World Health Organization (WHO) defines a rare disease as a specific health condition that affects fewer than 1 in 2,000 people in any WHO region.
Rare diseases can be genetic, infectious, or caused by environmental factors.
There are currently over 7000 known rare diseases impacting more than 300 million people globally, with 70% of these conditions starting in childhood.
Around 80% of rare diseases have a genetic cause, almost 70% of which present in childhood; about 95% lack approved treatments.
Nearly one in five cancers (about 20%) is classified as rare.
International Classification of Diseases ICD-11 includes some 5500 rare diseases and their synonyms.
- The ICD serves to record and report health and health-related conditions globally.
Rare disease – Indian Scenario
India lacks data on the number of people affected by various types of rare diseases.
- To overcome this, a hospital-based National Registry for Rare Diseases has been initiated by ICMR by involving centers across the country that are involved in the diagnosis and management of Rare Diseases.
The Ministry of Health and Family Welfare, Government of India, formulated a National Policy for Treatment of Rare Diseases (NPTRD) in July 2017.
The commonly reported rare diseases in India: –
- Primary immunodeficiency disorders, Lysosomal storage disorders (Gaucher’s disease, Mucopolysaccharidoses, Pompe disease, Fabry disease etc.)
- Small molecule inborn errors of metabolism (Maple Syrup urine disease, organic acidemias, etc.),
- Cystic Fibrosis, osteogenesis imperfecta, certain forms of muscular dystrophies and spinal muscular atrophy, etc.