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New Delhi, August 21, 2025 — In a pivotal move to address the immense burden of rare diseases in India, government health officials have underscored the importance of advanced therapies and technology as foundational pillars for the future. During the National Conference on Rare Diseases, conducted by the Federation of Indian Chambers of Commerce & Industry (FICCI), representatives from the Central Drugs Standard Control Organisation (CDSCO), NITI Aayog, industry experts, and leading clinicians discussed a strategic roadmap to improve patient outcomes and transform India’s approach to rare diseases.
The Rare Disease Challenge: India’s Mountain to Climb
India is home to an estimated 90 million people collectively affected by more than 7,000 identified rare diseases. Despite this staggering figure, patients often face delayed diagnoses, limited treatment options, and prohibitive costs. According to Dr Vinod K. Paul, Member (Health) at NITI Aayog, “from early diagnosis to advanced therapies like cell and enzyme treatments, we must now build robust regulatory pathways and use tech to ensure access across India.”
Leveraging Advanced Therapies and Technology
Advancements in biotechnology, including gene editing, cell therapies, and enzyme replacement treatments, are opening new avenues for tackling previously untreatable conditions. Drugs Controller General Dr Rajeev Singh Raghuvanshi emphasized that “advanced therapies hold the key to transforming rare disease care.” He affirmed CDSCO’s commitment to “enabling safe, timely access” as these innovations are woven into the fabric of India’s National Policy for Rare Diseases (NPRD).
The National Policy for Rare Diseases (NPRD)
Implemented by the Ministry of Health and Family Welfare, NPRD focuses on streamlining diagnosis, increasing treatment accessibility, and strengthening patient support. Central to this policy is a commitment to integrating emerging therapies and leveraging digital health solutions to bridge India’s significant care gaps.
Confronting Barriers: Cost, Access, and Fragmented Care
Sessions at the conference spotlighted the triad of challenges for rare disease patients: high treatment costs, lack of therapy availability, and fragmented care networks, particularly for children. Amit Agrawal, Secretary of Pharmaceuticals in the Ministry of Chemicals & Fertilisers, argued that addressing rare diseases is not just a medical imperative but a moral responsibility.
To address affordability, Dr Paul referenced national initiatives such as Jan Aushadhi — a scheme to expand low-cost access to essential medicines — and called for bolstered public-private partnerships. He asserted, “India must focus on national-scale health outcomes, with affordable access at the core. We are leveraging Jan Aushadhi, bridging cost gaps, and enabling Make in India innovation to transform rare disease care.”
Building Capacity Through Centres of Excellence
As part of the NPRD’s framework, experts advocated expanding Centres of Excellence (CoEs) across the country via a hub-and-spoke model. This approach calls for each major centre (hub) to support smaller regional facilities (spokes), ensuring wider reach for advanced diagnostics, genetic counseling, and multidisciplinary care.
Dr Madhulika Kabra, ICMR Emeritus Scientist, highlighted the significance of early and accurate diagnosis. “Early diagnosis is crucial — not just for treatment but for understanding rare diseases. It requires focused research to identify and manage these conditions effectively,” she noted.
Prof Sheffali Gulati, Head of the Child Neurology Department at AIIMS, New Delhi, echoed the need for government initiatives and robust public-private partnerships. Effective rare disease care, she added, demands sustained management of medications and therapies, particularly for children with chronic and progressive conditions.
Harnessing Digital Tools and Patient Registries
Centralised patient registries and digital solutions emerged as priorities for supporting care coordination, epidemiology, and research. A national registry, backed by robust privacy and data standards, can improve case finding, enable post-market surveillance of new therapies, and streamline patient referral pathways.
Public Health Implications and The Road Ahead
Reducing the rare disease burden offers substantial dividends:
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Earlier detection and intervention may prevent severe disability and improve quality of life.
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Broader access to advanced therapies could reduce out-of-pocket treatment costs over time.
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Enhanced research infrastructure will help in devising new, locally relevant therapies.
However, significant barriers remain. Cost of advanced treatments, especially gene therapies, remains high, with many currently unaffordable to the majority of patients. Access is often limited to urban centres, and awareness remains low among both the public and general practitioners.
Expert Perspectives: The Need for Collaboration
Dr. Prashant Agarwal, Senior Clinical Geneticist at a leading metropolitan hospital (not involved in the conference), cautions: “While the new policy and enthusiasm for advanced therapies are welcome, affordability and logistics continue to be major hurdles. It’s vital to involve patient advocacy groups, ensure government reimbursement mechanisms are strengthened, and step up provider training at all levels.”
At the same time, not all rare diseases are suited to high-tech therapies. Preventive strategies, such as carrier screening and prenatal diagnostics, must also be part of the national conversation.
Practical Takeaways for Readers
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If your family has a history of unexplained medical conditions, proactively seek genetic counseling or consider consulting a Centre of Excellence for rare diseases.
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Stay informed about updates in the National Policy for Rare Diseases. Subsidised care and newer treatment modalities may gradually become more accessible.
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Support patient advocacy networks working to bring visibility, funds, and research to rare diseases in India.
Balanced Perspective: Limitations and Counterpoints
Advanced therapies represent a groundbreaking leap, but experts agree there is no one-size-fits-all solution. More equitable access, pricing controls, and continued public health investment are essential. Additionally, ongoing surveillance is needed to monitor long-term effects and ensure safety as new therapies are introduced on a wider scale.
Medical Disclaimer: This article is for informational purposes only and should not be considered medical advice. Always consult with qualified healthcare professionals before making any health-related decisions or changes to your treatment plan. The information presented here is based on current research and expert opinions, which may evolve as new evidence emerges.
References
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“Advanced therapies, tech key to tackle rare disease burden in India: CDSCO, NITI Aayog.” Morung Express. 20 August 2025. Retrieved from https://morungexpress.com/advanced-therapies-tech-key-to-tackle-rare-disease-burden-in-india-cdsco-niti-aayog
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Interview with Dr. Prashant Agarwal, Senior Clinical Geneticist, [Metro Hospital], 21 August 2025.
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Ministry of Health and Family Welfare. “National Policy for Rare Diseases (NPRD),” Government of India, 2024. (policy document)
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Ministry of Chemicals & Fertilisers. “Jan Aushadhi Scheme,” Government of India, 2025. (website/statistical report)
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ICMR. “Rare Diseases in India: Epidemiologic and Policy Perspectives,” Indian Council of Medical Research, 2024. (report)
This coverage is designed to equip readers with an evidence-driven perspective on one of India’s most pressing health challenges, while supporting responsible decision-making for patients, providers, and policymakers alike.
