Understanding Rare Diseases

What is a Rare Disease?

A rare disease is a health or genetic condition that affects a very small number of people in the total population. It predominantly affects children, often from birth and they continue to live with that condition thorough out their life time.

Facts & Facets of Rare Diseases in India

There are more than 9000 rare diseases identified globally. Individually rare, however, collectively they affect more than 30 crore people globally.

  • Burden of rare diseases in India is ~ 5 – 7 % of an estimated 1.4 billion population; i.e., People Living with Rare Diseases (PLWRDs) are ~ 7.0 – 9.6 crores*.
  • 80% of rare diseases are genetic in nature and occurs at birth. Other causes include infections, exposure to toxins (like heavy metals or asbestos), or issues with the immune system.
  • Because the diseases are so rare, most doctors and the general public have little to no awareness of them. This leads to The Diagnostic Odyssey. It can take years for a correct diagnosis, with patients often seeing multiple specialists and receiving wrong diagnoses.
  • Mortality is ~35% in the first year of birth, if the children are not attended to*.
  • Burden is 3-fold more on mothers. Drains the entire family emotionally, financially and stigmatize them socially.

*(www.orphanet.net)

Challenges of Rare Diseases in India

For patients and caregivers in India, the challenges are often much greater due to our healthcare landscape.

1. Genetic and Cultural Factors

  • High Incidence: India has a high burden of rare diseases, with some studies estimating up to one-sixth of global rare disease cases occur here.
  • Consanguinity and Endogamy: Cultural practices like marriages within the same community (endogamy) or between blood relatives (consanguinity) can increase the risk of autosomal recessive diseases, as they make it more likely for a child to inherit two copies of a "changed recipe" gene from carrier parents.
  • Common Rare Diseases: Some rare diseases are found more frequently in specific regions of India, such as β-thalassemia in parts of Gujarat and Punjab, and Duchenne Muscular Dystrophy (DMD) in parts of Tamil Nadu.

2. Treatment and Cost Barrier

  • Orphan Drugs: Treatments developed for rare diseases are often called "Orphan Drugs" because they were historically neglected by drug manufacturers due to the small patient population.
  • Costly Treatment: Many effective treatments are imported and prohibitively expensive, hence are not affordable leading to catastrophic financial strain on families. A vast majority (less than 10%) of rare diseases currently have specific treatments available.

3. Policy and Support

  • Government Support: The National Policy for Rare Diseases (NPRD) 2021 provides for financial assistance (up to 50 lakhs per patient for life) for 63# Rare Diseases listed in NRPD 2021 and are treatment at notified 14 Centres of Excellence (CoEs) across India.
  • Groups of Diseases: NRPD 2021 groups rare diseases into three categories based on the treatment approach to guide support:
    • Group 1: Diseases treatable with a one-time high-cost intervention, like a transplant.
    • Group 2: Diseases requiring long-term/lifelong treatment with relatively lower-cost interventions (e.g., specific diets, supplements).
    • Group 3: Diseases requiring very high-cost, lifelong treatment.
  • Centres of Excellence (CoEs): These are specialized hospitals recognized for rare disease diagnosis and treatment. However, they are few and unevenly distributed, complicating access to care.
  • Crowdfunding: For Group 3 diseases that need lifelong, expensive treatment, the policy has encouraged a crowdfunding platform to connect donors directly with patients/hospitals.
  • India was a co-sponsoring Member State and supported the adoption of the resolution ‘Rare Diseases: A Global Health Priority for Equity and Inclusion’ at the 78th World Health Assembly (WHA) in May 2025, which resulted in a 10-year Global Action Plan for rare diseases.

# https://www.pib.gov.in/PressReleaseIframePage.aspx?PRID=2043516