India pushes rare disease care with Rs 50 lakh support and focus on local innovation

India is taking a broader push on rare disease care through the National Policy for Rare Diseases, 2021, with financial assistance progressively enhanced to Rs 50 lakh and implementation expanded through Centres of Excellence. Officials said an India-specific model focusing on resource optimisation, indigenous innovation and preventive strategies is needed to strengthen diagnosis, treatment and prevention rather than relying solely on Western frameworks.

At a two-day national conference on rare diseases organised by the Union Health Ministry, the director general of the Indian Council of Medical Research said India must chart its own path in diagnosis, treatment and prevention rather than relying solely on Western frameworks. He said developed countries have greater resources, but India can leverage its strengths through population-based approaches, preventive strategies, and the effective use of digital technologies, including social media and emerging tools such as artificial intelligence, to expand outreach and improve early detection.

He said that in the 1990s, identifying a patient with a suspected rare disease often led to a sense of helplessness, as diagnosis was extremely difficult and treatment options were virtually unavailable. Today, while even financial support of Rs 50 lakh per patient may seem insufficient given the high cost of therapies, it represents remarkable progress that the country is now able to meaningfully support children affected by rare diseases.

Recent estimates cited in one source suggest 70 million to 100 million Indians are living with a rare disease, with many being children. Treatments for Spinal Muscular Atrophy, Gaucher's disease, or Pompe disease can run into crores of rupees, and one single dose of a gene therapy might cost ₹16 crore or more.

Officials said the need for addressing rare diseases was first highlighted in the National Health Policy, 2017, and was subsequently institutionalised through the National Policy for Rare Diseases, 2021, which has provided a comprehensive framework. The policy is being operationalised through Centres of Excellence, and their number has expanded from eight to 15, including two in the Northeast.

The policy groups rare conditions into three categories and offers financial help up to ₹50 lakh for eligible patients, especially in high-cost cases. But for the most expensive therapies, that cap frequently falls short, and delays in approvals or limited disbursements mean families cannot always wait for government aid alone, especially when time is critical for infants or young children where early intervention makes all the difference.

One source said medical crowdfunding has emerged as a complement that helps cover the gap quickly so treatment can start without delays. In one cited case, the family of Baby Aasmika, who was diagnosed with SMA Type 1, needed around ₹16 crore for Zolgensma gene therapy and raised ₹8.41 crore with the help of over 5.29 lakh donors.

The ICMR chief said careful planning of diagnostics and treatment pathways is essential within a defined financial support framework. He highlighted family-based approaches, including parental genetic analysis and antenatal diagnosis, as cost-effective strategies for prevention and early intervention.

He also said the ICMR is working to expand the range of tools available for managing rare diseases, including promoting the indigenisation of therapies and encouraging domestic production of affordable alternatives to high-cost drugs in collaboration with industry partners and supported by clinical evaluation through Centres of Excellence. He said six repurposed drugs have been identified and clinical efforts are being initiated for their use in rare diseases, while efforts in gene therapy are being pursued in collaboration with institutions such as the Department of Biotechnology and CSIR.

Officials said the conference aims to bring together key stakeholders to deliberate on challenges, encourage innovations, and strengthen the national response to rare diseases. They also emphasised awareness and early diagnosis, saying rare diseases require collective and sustained efforts from all stakeholders.