National Conference on Rare Diseases Charts Roadmap for Affordable Care, and Early Diagnosis

Addressing the gathering, Union Health Secretary Smt. Punya Salila Srivastava highlighted that India’s rare disease response has evolved significantly over the past decade.

In a major push to strengthen India's response to rare diseases, the Union Ministry of Health and Family Welfare inaugurated a two-day National Conference on Rare Diseases in New Delhi on May 5–6, 2026. The conference marks a critical milestone in shaping a more coordinated, innovation-driven, and patient-centric national strategy to tackle the growing challenges posed by rare and genetic disorders.

Bringing together policymakers, researchers, clinicians, industry stakeholders, and patient advocates, the conference aims to accelerate collaboration, foster innovation, and generate actionable solutions to improve diagnosis, treatment, and long-term care for rare disease patients across India.

Building on a Strong Policy Foundation

Addressing the gathering, Union Health Secretary Smt. Punya Salila Srivastava highlighted that India's rare disease response has evolved significantly over the past decade. She noted that the issue was first formally recognized in the National Health Policy, 2017, and subsequently institutionalized through the National Policy for Rare Diseases (NPRD), 2021, positioning India among a select group of countries with a structured national framework.

The policy is being implemented through a growing network of Centres of Excellence (CoEs)—premier tertiary care institutions that provide specialized diagnosis and treatment. The number of such centres has expanded from 8 to 15, including dedicated facilities in the North-East, significantly strengthening India's clinical infrastructure for rare diseases.

Financial Support and Policy Reforms Expanding Access

One of the key highlights of India's rare disease programme is the enhanced financial assistance of up to ₹50 lakh per patient, aimed at improving access to high-cost treatments.

Recognizing the prohibitive cost of life-saving therapies, the government has also taken steps to exempt critical drugs from basic customs duty, with further expansions announced in the latest Union Budget. These measures are expected to reduce treatment costs and improve availability of essential medicines.

So far, around 1,800 patients have already received treatment support under the policy, reflecting steady progress in translating policy intent into real-world impact.

Focus on Early Diagnosis, Genetics, and Prevention

Experts at the conference emphasized that early diagnosis remains one of the biggest challenges in managing rare diseases. Smt. Srivastava highlighted the growing role of genetic analysis, early screening, and informed clinical management in improving patient outcomes.

The government's UMMID (Unique Methods for Management of Inherited Disorders) initiative is playing a crucial role in this regard, with NIDAN Kendras expanding access to genetic counselling and diagnostic services across the country.

Health experts also stressed the importance of family-based approaches, including parental genetic testing and antenatal diagnosis, as cost-effective strategies for prevention and early intervention.

ICMR Pushes Indigenous Research and Affordable Therapies

Dr. Rajiv Bahl, Secretary, Department of Health Research and Director General of the Indian Council of Medical Research (ICMR), highlighted the remarkable transformation in rare disease care over the past three decades. He noted that what was once a field marked by diagnostic uncertainty and lack of treatment options is now witnessing rapid advancements in research and care delivery.

ICMR is actively promoting indigenization of therapies and encouraging domestic production of affordable alternatives to expensive imported drugs. Collaborative efforts with industry partners and Centres of Excellence are helping expand access to treatment.

Notably, six repurposed drugs have been identified for use in rare diseases, offering cost-effective options that can significantly improve patient outcomes even if they do not provide a complete cure.

Advancing Frontier Technologies: Gene Therapy and AI

India is also making steady progress in frontier medical technologies, including gene therapy, in collaboration with institutions such as the Department of Biotechnology (DBT) and CSIR. Dr. Bahl pointed to advancements like CAR-T cell therapy as evidence of India's growing capabilities in cutting-edge biomedical research.

Additionally, the use of digital technologies, artificial intelligence, and social media platforms is being explored to enhance early detection, improve outreach, and support patient management at scale.

Strengthening Health Systems and Capacity Building

Dr. Sunita Sharma, Director General of Health Services, stressed the need to integrate rare disease services across all levels of healthcare. She highlighted the importance of capacity building among healthcare professionals, expansion of screening programmes, and adoption of standardized treatment protocols.

Improving awareness among both healthcare providers and communities, she noted, will be key to achieving timely diagnosis and better outcomes.

A Collaborative Roadmap for the Future

The conference features a series of technical sessions focusing on genomic technologies, research partnerships, affordable treatment strategies, and patient-centric care models. It also aims to strengthen coordination between stakeholders and ensure equitable access to quality healthcare services.

The Ministry reaffirmed its commitment to building a healthcare ecosystem that ensures timely, affordable, and accessible care for all patients affected by rare diseases, emphasizing that sustained collaboration across government, academia, industry, and civil society is essential to addressing this complex public health challenge.

A Turning Point in Rare Disease Care

With increasing policy support, expanding clinical infrastructure, and growing emphasis on innovation, India is steadily moving toward a more inclusive and responsive rare disease ecosystem. The National Conference is expected to play a pivotal role in shaping future strategies and accelerating progress in this critical yet often overlooked area of healthcare.