What is Rare Disease ?
A rare disease is generally understood as a condition that occurs infrequently within a population. However, there is no single, universally accepted definition. Various countries have established their own criteria based on factors such as population size, healthcare infrastructure, and resource availability. These criteria often revolve around three core elements: the number of individuals affected, the prevalence rate, and the availability of treatments.
According to the World Health Organization (WHO), a condition can be considered rare if it affects fewer than 6.5 to 10 people per 10,000. In the United States, any disease impacting fewer than 200,000 individuals is labeled as rare. Meanwhile, China considers a disease rare if it affects fewer than 1 in 500,000 people or has a neonatal morbidity rate below 1 in 10,000. Other regions define rare diseases based on specific prevalence numbers per 10,000 individuals, ranging from 7.5 in the U.S. to 1.0 in Taiwan.
Why does having a clear definition matter? A formal definition helps channel financial support toward drug discovery, biologic development, and comprehensive research for these underserved conditions. When healthcare systems and policymakers recognize a disease as rare, they can prioritize funding and resources, potentially accelerating progress in diagnosis, treatment, and patient support.
In India, like in many developing countries, there is currently no official definition of rare diseases. However, the Organization for Rare Diseases India (ORDI) recommends categorizing a condition as rare if it affects 1 in 5,000 individuals or fewer. Establishing a recognized standard can make a significant difference in resource allocation and patient care, paving the way for early diagnosis, better treatment options, and more hope for those living with these uncommon conditions.
