What are rare diseases?
A rare disease as the name suggests is a disease which is not common and occurs infrequently. The World Health Organization (WHO) defines a rare disease as a chronic, disabling, lifelong condition with a prevalence of 1 or less per 1000 people. The United States (US) defines a rare disease as a condition affecting fewer than 200,000 people in the country. The European Union (EU) defines a rare disease as affecting 5 or less persons per 10,000 people. India has no standard definition of a rare disease yet. However, given the population dynamics the Draft National Policy for Treatment of Rare Diseases in India (2016) estimates that nearly 70-90 million are affected by some form of a rare disease in the country. Given the lack of epidemiology data on prevalence and incidence, we can take rare diseases as occurring in 7.5 per 10,000 people.
In India, nearly 30% of the affected rare disease population are children who may not live beyond the age of 5. It takes nearly 7-8 years to diagnose a rare disease. 80% of all rare diseases are genetic in origin. Rare diseases also include autoimmune disorders and rare cancers. While there are nearly 7000 rare diseases, less than 5% have approved treatment or cures.
Accelerating research in rare diseases can also pave the way for treatment and cures for other common disorders. Globally and in India, rare disease awareness and public momentum has been created.