In News:

• Rare Disease Day is observed globally on 28 February (or 29 February in leap years, symbolically the rarest day) to highlight the medical, social, and economic challenges faced by persons living with rare diseases.
• Established in 2008 and coordinated by EURORDIS (European Organisation for Rare Diseases) in partnership with over 70 national patient alliances, the day seeks to promote equity in diagnosis, healthcare access, research, and treatment availability.

Understanding Rare Diseases

Definition

There is no single universal definition of a rare disease. Globally, an emerging consensus defines it as a condition affecting ≤ 1 in 2,000 persons in a WHO-defined region. The classification is prevalence-based in many countries, though approaches vary.

Key Characteristics

• 6,000–10,000 identified rare diseases globally
• Affect an estimated 300–450 million people worldwide
• 50–75% manifest in childhood or at birth
• Nearly 80% are of genetic origin (e.g., lysosomal storage disorders)
• Others include rare cancers, autoimmune and infectious diseases

A major concern is the treatment gap—approximately 95% of rare diseases lack approved curative therapies, making them a serious global public health challenge.

Rare Diseases in India

India does not adopt a strict prevalence-based definition due to limited epidemiological data. Instead, the National Policy for Rare Diseases 2021 (NPRD 2021) categorises diseases based on:

• Group 1: Disorders requiring one-time curative treatment
• Group 2: Diseases requiring long-term or lifelong treatment
• Group 3: Conditions where treatment is available but costly and requires sustained therapy

Estimates suggest 72–96 million people in India may be living with rare diseases, indicating a significant though under-documented burden.

Policy and Financial Support Mechanisms

1. Financial Assistance

Under NPRD 2021:

• Financial support of up to ?50 lakh per patient
• Applicable for any of the 63 identified rare diseases
• Treatment provided at designated Centres of Excellence (CoEs)

However, implementation challenges such as delayed fund disbursal, limited diagnostic infrastructure, and uneven geographical distribution of CoEs have affected access to treatment.

2. Budgetary and Fiscal Measures (Union Budget 2026–27)

• Seven additional rare diseases included for exemption from import duties on personal imports of drugs, medicines, and food for special medical purposes.
• Rare diseases identified as a focus area under the Production Linked Incentive (PLI) Scheme for Pharmaceuticals, encouraging domestic manufacturing of orphan drugs.

These measures aim to reduce dependency on expensive imports and improve affordability.