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Definition by WHO

a disease or disorder with a prevalence of

≤10 per 10,000 population is rare. 

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70-80% of

rare diseases are genetic

Approximately 450 rare diseases have

been identified in India

Rare Diseases:

WHO defines rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. However, different countries have their own definitions to suit their specific requirements and in context of their own population, health care system and resources. The average prevalence thresholds used to define rare diseases ranges among different jurisdictions from 1 to 6 cases/10,000 people, with WHO recommending a prevalence less than 10/10,000 population for defining rare diseases.


A fundamental challenge in research and development for the majority of rare diseases is that there is relatively little known about the pathophysiology or the natural history of these diseases. Rare diseases are difficult to research upon as the patient pool is very small and it often results in inadequate clinical experience.


  • Therapeutic strategies for prevalent Rare/Orphan Disorders

    Rare genetic diseases a public health concern in India, with an estimated burden of about 80 million cases. This is about one-fifth of the global burden. High-genetic disease prevalence has been noted in affected communities with high genetic relatedness between parents and the majority of rare diseases in India occur at birth due to recessive genetic defects. While many of the commonly occurring rare diseases have viable therapies, most of these therapeutic agents are patent protected and very expensive for the Indian user. Read More


Ministry of Health and Family Welfare,Government of India


Indian Council of Medical Research


Council of Scientific & Industrial Research


Directorate General Of Health Services


Department of Biotechnology

Department of Pharmaceuticals


Department of Science and Technology