Rare Diseases: Awaiting renewed focus
The global rare disease drug market is expected to touch $242 billion by 2024 with a Compound annual growth rate (CAGR) of 12.3 per cent between 2019-2024. Globally, the definition of rare disease (RD) is at nascent stage although it is evolving constantly. It is assumed that there are approximately 8,000 different types of RDs, with more being discovered each day. Particularly in India, nearly 450 RDs have been enlisted. Due to its poor diagnosis mechanism, low prevalence and limited treatment options, often it is addressed as an ‘orphan’ disease. Rare diseases in India The Ministry of Health and Family Welfare, Government of India announced that so far only about 450 rare diseases have been recorded in India from tertiary care hospitals. The most common rare diseases include haemophilia, thalassemia, sickle-cell anaemia, primary immunodeficiency in children, auto-immune diseases, lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gaucher’s disease, cy ...