Rare-Disease Drugs Can Become India’s Next Pharmaceutical Frontier Through Innovation, Regulation and Affordable Access

Recent Developments:

• India’s pharmaceutical sector has established global strength in generic medicines, but rare diseases present a different challenge because extremely small patient populations, high research costs and complex therapies make conventional commercial models difficult to sustain.
• The National Policy for Rare Diseases, 2021 provides financial and medical support of up to ₹50 lakh per patient for treatment at designated Centres of Excellence. As of 2026, the Government has expanded the number of designated Centres of Excellence to 15.
• The Government has also promoted domestic manufacturing of medicines for rare diseases. For example, risdiplam, used in the treatment of spinal muscular atrophy, is being manufactured domestically, while a generic version has also been launched in India.
• The Department of Biotechnology’s UMMID initiative is expanding genetic screening, diagnosis, counselling and clinical capacity for inherited disorders. Its recent expansion aims to cover around 22 States/Union Territories through approximately 70 UMMID components.
• Globally, rare diseases are increasingly being treated as an equity and inclusion issue. The World Health Organization reported in 2025 that more than 7,000 rare diseases affect over 300 million people, with around 70% beginning during childhood.

Understanding Rare Diseases:

Definition and Scale:

• Rare diseases are conditions that occur infrequently within a population and are often chronic, progressive, disabling or life-threatening.
• There is no single globally uniform numerical definition; the World Health Organization notes that rare diseases are often described as conditions affecting fewer than 1 in 2,000 people.
• The collective burden is substantial because thousands of individually uncommon diseases together affect hundreds of millions of people globally.
• India has documented 1,004 rare genetic disorders in the GenTIGS database, illustrating the considerable genetic diversity relevant to rare-disease research.
• Drugs developed specifically for rare diseases are commonly called orphan drugs because the small patient population historically provided limited commercial incentives for pharmaceutical companies.

Why Rare Diseases Create a Distinct Policy Problem:

• A conventional pharmaceutical market depends on a sufficiently large patient population to recover research, clinical-trial, manufacturing and regulatory costs.
• Rare diseases reverse this model: the scientific need can be high, but the number of potential buyers for an individual therapy can be extremely small.
• Consequently, even when an effective treatment exists, its price, availability and distribution can remain major barriers.

The Global Orphan-Drug Model:

United States Orphan Drug Act:

• The US Orphan Drug Act, 1983 attempted to correct the market failure by providing incentives for pharmaceutical companies to develop treatments for rare diseases.
• Major incentives included tax benefits, grants, regulatory assistance and market exclusivity for qualifying products.
• The policy demonstrated how governments can use targeted incentives to reduce the commercial risk of rare-disease research.
• The United States subsequently developed a substantial orphan-drug pipeline, although the exact number of approvals depends on the designation and approval category used.

The Access Paradox:

• Incentives can increase drug development but do not automatically guarantee affordable access.
• Small patient populations mean that companies may attempt to recover large development costs from a limited number of patients, contributing to very high treatment prices.
• Advanced therapies, particularly gene and cell therapies, can involve exceptionally high one-time or lifelong treatment costs.
• This creates a policy dilemma between rewarding pharmaceutical innovation and ensuring equitable access to essential treatment.

India’s Current Support System:

National Policy for Rare Diseases, 2021:

• The National Policy for Rare Diseases, 2021 was introduced to improve prevention, diagnosis, treatment, research and financial support for rare-disease patients.
• The policy provides financial assistance of up to ₹50 lakh per patient for treatment through designated Centres of Excellence, subject to the applicable guidelines.
• The policy categorizes rare diseases into three groups according to the nature, availability and cost of treatment:
• Group 1: Diseases amenable to a one-time curative treatment.
• Group 2: Diseases requiring long-term or lifelong treatment that is relatively less costly and has documented benefits.
• Group 3: Diseases for which effective treatment exists but is very expensive and generally lifelong.
• As health is primarily a State subject, implementation requires coordination between the Union Government, State Governments, Centres of Excellence and specialized medical institutions.

Centres of Excellence:

• The Government has progressively expanded the network of designated Centres of Excellence, reaching 15 centres by 2026.
• These centres provide specialized diagnosis, treatment, multidisciplinary care and access to financial assistance under the national policy.
• Concentrating expertise in designated centres can improve diagnostic accuracy, treatment protocols, clinical research and patient referral systems.

Crowdfunding and Financial Gaps:

• Government assistance can substantially reduce treatment costs but may remain inadequate for therapies whose total cost runs into several crores of rupees.
• This has resulted in dependence on crowdfunding, charitable support and manufacturer assistance programmes for some high-cost therapies.
• For example, in 2025, a child in Kolkata received a gene therapy costing about ₹16 crore, after approximately ₹9 crore was raised through crowdfunding, supplemented by support through the manufacturer's early-access programme.
• The case illustrates the broader problem of relying on individual fundraising for treatments that may be medically necessary but commercially unaffordable.

Major Challenges in Developing Rare-Disease Drugs:

Commercial and Financial Challenges:

• The small number of patients with an individual disease reduces the potential market, weakening conventional commercial incentives for pharmaceutical research.
• Rare-disease development often involves high expenditure on genomic research, preclinical studies, clinical trials, regulatory compliance and specialized manufacturing.
• High treatment prices can further reduce effective demand and create a cycle in which low patient numbers and high prices reinforce each other.

Clinical-Trial Challenges:

• Identifying sufficiently large and geographically distributed patient cohorts is difficult because individual rare diseases affect relatively few people.
• Small sample sizes make it difficult to establish statistically robust evidence using conventional clinical-trial designs.
• Researchers must also identify appropriate clinical endpoints, particularly when diseases progress slowly or involve multiple organ systems.
• International patient registries, natural-history studies and adaptive trial designs can help address these evidence-generation challenges.

Manufacturing and Distribution Challenges:

• Rare-disease therapies often require small-batch, highly specialized manufacturing, which can have high per-unit costs.
• Advanced therapies such as gene and cell therapies require specialized laboratories, trained personnel, quality-control systems and appropriate logistics.
• Even after regulatory approval, manufacturing scale-up, cold-chain requirements and specialized administration can restrict access.

India’s Potential as a Rare-Disease Pharmaceutical Hub:

Large and Diverse Patient Population:

• India’s large population means that even diseases with low prevalence can produce substantial absolute numbers of patients.
• Certain genetic disorders may also have relatively higher prevalence in particular communities because of population structure and endogamy, creating opportunities for disease-specific research and cohort identification.
• A coordinated national patient registry can therefore convert India’s large population into an advantage for clinical research and natural-history studies.

Pharmaceutical and Biotechnology Capacity:

• India possesses strong capabilities in generic medicines, biosimilars, vaccines and biotechnology, providing an industrial foundation for expanding into rare-disease therapeutics.
• Emerging capabilities in gene therapy and cell therapy, including CAR-T technology, create opportunities to move from generic-drug manufacturing towards higher-value biomedical innovation.
• Lower manufacturing costs and a large pool of scientific and technical professionals could support cost-efficient small-batch production if appropriate regulatory and procurement systems are developed.

Regulatory and Policy Measures:

Streamlined Regulatory Pathways:

• The New Drugs and Clinical Trials Rules, 2019 provide the regulatory framework for new drugs and clinical trials in India.
• India has provisions for regulatory consideration of drugs already approved in specified foreign jurisdictions, reducing unnecessary duplication in some circumstances while retaining regulatory oversight.
• Such mechanisms can reduce development time for rare-disease therapies, particularly where patient populations are too small to justify repeating extensive trials without scientific necessity.

Production and Industrial Support:

• The Production Linked Incentive Scheme for Pharmaceuticals seeks to strengthen domestic pharmaceutical manufacturing and promote higher-value pharmaceutical products.
• Greater domestic production can reduce dependence on imported rare-disease medicines and potentially improve price stability, supply security and treatment availability.
• Public procurement can further create a predictable market for manufacturers by aggregating demand across government hospitals and designated Centres of Excellence.

Major Government Initiatives:

UMMID Initiative:

• The Unique Methods of Management and Inherited Disorders initiative was launched by the Department of Biotechnology to strengthen genetic-disease prevention, diagnosis and management.
• Its major components include:
• Establishment of NIDAN Kendras for genetic diagnosis, counselling and comprehensive clinical care.
• Training of government medical professionals in biochemical genetics, cytogenetics, molecular genetics and clinical genetics.
• Screening of pregnant women and newborns for selected inherited disorders.
• The initiative links rare-disease policy with early diagnosis and prevention, rather than relying exclusively on expensive treatment after disease progression.

Research and Development:

• The Government has supported research through the Indian Council of Medical Research and other institutions for development of indigenous therapies for rare diseases.
• A national research ecosystem can reduce dependence on imported technologies and improve the availability of India-specific genetic and clinical evidence.
• Current research should increasingly focus on genomic medicine, gene therapy, cell therapy, precision medicine and affordable biologics.

What Should India Do Next?

Build a National Rare-Disease Ecosystem:

• Establish interoperable national patient registries and disease-specific databases linking hospitals, research institutions and Centres of Excellence.
• Use genomic and clinical data to identify patient cohorts, understand disease progression and improve clinical-trial recruitment.

Reduce the Cost of Therapies:

• Combine public procurement, pooled purchasing, domestic manufacturing and technology transfer to reduce treatment costs.
• Encourage Indian manufacturers to develop biosimilars, generic versions and improved manufacturing processes wherever intellectual-property and regulatory conditions permit.
• Develop sustainable financing mechanisms for therapies whose costs exceed existing government assistance.

Improve Regulatory Predictability:

• Create disease-specific regulatory guidance, scientific advice mechanisms and proportionate evidence requirements for ultra-rare conditions.
• Encourage international clinical-trial collaboration so that Indian patients can participate in global studies without unnecessary duplication of trials.

Strengthen Prevention and Early Diagnosis:

• Expand newborn screening, prenatal testing, genetic counselling and molecular diagnostics.
• Integrate rare-disease screening into appropriate public-health programmes, particularly where early diagnosis can prevent irreversible complications.
• Strengthen genetic counselling to address carrier detection, reproductive choices and family-level risk assessment.

Value Addition for UPSC:

GS-II Linkages:

• Health as a State subject: Requires Centre-State coordination in financing, infrastructure and service delivery.
• Equity and access: Rare-disease treatment raises questions of distributive justice because high treatment costs can exclude low-income households.
• Public procurement: Government demand aggregation can correct market failures created by small patient populations.

GS-III Linkages:

• Pharmaceutical self-reliance: Rare-disease therapeutics can move India from generic manufacturing towards high-value biotechnology.
• Innovation ecosystem: Genomics, gene therapy, cell therapy and precision medicine represent emerging areas of biomedical research.
• Intellectual property: India must balance innovation incentives with affordable access to essential therapies.

Key Conceptual Framework:

• Rare disease → Small patient population → Weak market incentive → Limited R&D → Few therapies → High prices → Poor access
• Policy response: Regulatory incentives + public procurement + domestic manufacturing + research funding + financial protection
• Long-term objective: Shift from merely importing expensive orphan drugs to building an affordable, innovation-driven and globally competitive rare-disease ecosystem.

Relevant SDGs:

• SDG 3: Good Health and Well-being — ensuring access to safe, effective and affordable healthcare.
• SDG 9: Industry, Innovation and Infrastructure — strengthening biotechnology and pharmaceutical innovation.
• SDG 10: Reduced Inequalities — preventing rare-disease patients from being excluded because of treatment costs.
• SDG 17: Partnerships for the Goals — promoting international research and technology collaboration.

Conclusion:

• Rare diseases represent a classic market-failure problem in healthcare: the medical need is significant, but the small number of patients with each individual disease limits conventional commercial incentives.
• India can address this gap by combining its pharmaceutical manufacturing capacity, large and diverse patient population, biotechnology capabilities and expanding regulatory infrastructure.
• The policy objective should extend beyond providing financial assistance after diagnosis to creating an integrated ecosystem covering early screening, diagnosis, research, clinical trials, domestic manufacturing, public procurement and sustainable financing.
• A successful strategy can simultaneously improve patient access, pharmaceutical self-reliance, biomedical innovation and India’s position in the global rare-disease therapeutics market.