There are an estimated 6000 to 8000 rare diseases in the world and any research on any of these diseases is always a welcome development.

While different countries define rare diseases differently as what is considered rare in a country may not be considered as such by others, but a disease is generally believed rare if it affects between 6% and 8% of the population.

India: Rare Disease Definition

There is no official definition of rare disease from the Ministry of Health & Family Welfare in National Policy for Rare Diseases (NPRD), 2020. In simple terms, the Indian government does not provide a numerical prevalence threshold like “1 in 2,500” or “1 in 5,000” in the official NPRD 2021.

The NPRD 2000 document clearly states this aspect on page number 10 stating, “India faces the limitation of lack of epidemiological data to be able to define rare diseases in terms of prevalence or prevalence rate, which has been used by other countries.”

While speaking at the World Rare Disease Day 2024 conference organized by IORD at IMA Hall, Khammam on March 3, IORD CEO & President Prof. Ramaiah Muthyala emphasized that although a definition for rare diseases exists in some countries, India still lacks one tailored to its unique context—a gap that initiatives like IORD’s pilot project with ASHA workers in Khammam and Kamepally aim to bridge by working toward a definitive, India-specific definition.

Statistically, according to EURORDIS – Rare Diseases Europe and Orphanet Ireland, the estimated number of people living with a rare disease is around at 300 million worldwide including a significant number of them living in India.

This is where research comes into play to understand the prevalence of Rare Diseases in India and awareness level of the people towards various inter-connected issues such as genetic contribution, existing support system, government policies on rare diseases and orphan drugs.