Health Sector – UHC, National Health Policy, Family Planning, Health Insurance, etc.

Orphan Diseases in India


From UPSC perspective, the following things are important :

Prelims level: Orphan Diseases

Mains level: NA

Central Idea

  • Health discussions often revolve around common ailments, such as diabetes, which affect a significant portion of the population.
  • However, amidst these well-known health issues, there are numerous rare/ orphan diseases that, though infrequent, can have devastating consequences for patients and their families.

What are Orphan Diseases?

  • Rare diseases, often referred to as orphan diseases, are characterized by a low prevalence rate, typically affecting one person in a population of 10,000.

Challenges Posed

  • Difficulty in Diagnosis: Rare diseases are challenging to diagnose, particularly for young medical practitioners who may have limited exposure to such cases. The rarity of these conditions means that many healthcare professionals may not have encountered them during their training.
  • Lack of Research: Limited prevalence has historically resulted in insufficient research efforts. With fewer cases to study, there has been a lack of scientific understanding and effective treatments for many rare diseases.
  • High Treatment Costs: While advances in medical research have led to the development of therapies for some rare diseases, the costs associated with these treatments are often exorbitant. From an Indian perspective, these costs can range from Rs. 1 million to Rs. 20 million per year, making them unaffordable for many.

Initiatives and Progress in India

  • Increasing Awareness: Greater awareness of rare diseases and advancements in genomic technologies for diagnosis have begun to address these challenges. As awareness spreads, more cases are being identified and correctly diagnosed.
  • Regulatory Incentives: Several countries, including India, have introduced regulatory incentives to encourage pharmaceutical companies to invest in research and development for neglected diseases. This has led to increased interest in orphan drugs.
  • Patient-Driven Initiatives: Patient groups and organizations in India are actively contributing to rare disease research and treatment. One notable example is the Dystrophy Annihilation Research Trust (DART), which is conducting clinical trials for Duchenne’s muscular dystrophy.
  • Government Initiatives: The government’s National Policy for Treatment of Rare Diseases is gradually making an impact. It aims to address rare diseases prevalent in India, such as cystic fibrosis, hemophilia, lysosomal storage disorders, and sickle-cell anaemia.

Lessons from Leprosy

  • Incidence Reduction: Leprosy, once prevalent in India, is now considered a rare disease due to successful efforts in reducing its incidence.
  • Research Benefits: Research on orphan diseases like leprosy can yield broader societal benefits. For instance, studies on synthetic antibiotics have shown a potential to curb the spread of leprosy to household relatives.
  • Government Goals: Research findings may contribute to achieving the government’s objective of making India leprosy-free by 2027.


  • Rare diseases present unique healthcare challenges that have long been neglected.
  • However, recent progress in diagnosis, research, and patient-driven initiatives is gradually improving the landscape for rare disease patients in India.
  • As awareness grows and regulatory support continues, there is hope for enhanced diagnosis, treatment options, and affordability, ultimately improving the lives of those affected by these conditions.

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