What are rare diseases?

The term “rare disease” refers to an illness that affects a small portion of the population and often causes significant health challenges. It is estimated that there are over 7000 known rare diseases worldwide.

Rare diseases are not uncommon in India. The Ministry of Health and Family Welfare has identified around 450 such diseases in India, with approximately 50% of cases affecting children, and 35% of children may die before their 1st birthday.

Approved treatments are available for less than 5% of cases, making the situation complex. Moreover, newer rare disease cases continue to be reported, further adding to the complexity of addressing these conditions. 

The commonly reported rare diseases in India are Haemophilia, Thalassemia, Sickle-cell Anaemia and Primary Immunodeficiency in children, Autoimmune diseases, Lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gaucher’s disease, Cystic Fibrosis, Hemangiomas and certain forms of muscular dystrophies.

According to the World Health Organization (WHO), rare diseases are chronic, lifelong disorders that affect fewer than one in 1,000 individuals. They include a range of conditions, including autoimmune disorders, congenital malformations, inherited cancers, and certain endemic infectious diseases with very low prevalence. These diseases are often distressing and require specialized care and management.


The cause of many rare diseases is still unknown, but some can be attributed to changes in a single gene, making them genetic diseases. These gene mutations can be hereditary, explaining why certain rare diseases run in families.

However, it’s important to remember that genetics are not the only factor. Environmental factors like diet, smoking, or chemical exposure can also contribute to rare diseases. These factors can directly cause the disease or interact with genetic factors to increase its severity.


The challenges faced by individuals with rare diseases in India are multi-fold. These challenges include delayed or misdiagnosis, limited access to specialized healthcare services, high treatment costs, lack of availability of orphan drugs (medications specifically developed for rare diseases), and limited awareness and support systems.

To address these challenges, the Indian government has taken some initiatives in recent years. The Ministry of Health and Family Welfare launched the National Policy for Treatment of Rare Diseases in 2017. This policy aims to provide financial assistance for the treatment of rare diseases under certain conditions. It outlines provisions for support in diagnosis, treatment, rehabilitation, and counselling services for affected individuals.

To encourage the development of treatments for rare diseases, the Orphan Drug Act was passed in 1983. This act provides incentives for pharmaceutical companies to invest in research and development for rare diseases. Over the past 25 years, the U.S. Food and Drug Administration (FDA) has approved more than 340 treatments for rare diseases.

It is important to raise awareness, improve diagnostic capabilities, enhance access to treatment and support services, and promote research and collaboration to address the specific needs of individuals with rare diseases in India.

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