Why rare diseases are a proving ground for medical innovation

Breakthroughs that eventually reshape mainstream medicine often begin in small, well-characterized patient populations. Nowhere is this clearer than in rare diseases, which for decades have served as a natural proving ground for new scientific tools, therapeutic platforms and data-driven approaches to care. For example, early successes in rare diseases and gene therapy contributed to the innovations that make today’s precision medicine platforms in cancer possible.

Yet despite their catalytic role in innovation, rare diseases remain one of the largest unmet needs in global health. While individually uncommon, some 7,000 collective disorders affect more than 300 million people worldwide – and more than a billion individuals when families and caregivers are included. The economic and societal burden is profound, touching every aspect of life and straining health systems, insurers, employers and economies.

Across all these challenges lies a common opportunity: better data. High-quality data has the potential to drive scientific innovation, accelerate diagnosis and treatment, reduce avoidable suffering and lower costs for every stakeholder.

Rare diseases have helped launch many of the platforms that now define modern medicine. Their scientific complexity – and the active engagement of rare-disease patient groups, who have long driven research, awareness and data collection – has repeatedly pushed industry, scientists and health systems to innovate earlier and more creatively than in other areas of medicine.

Some of the earliest clinical successes in genomic sequencing, mRNA technologies, antisense oligonucleotides, RNA interference and gene therapy occurred in rare, single-gene disorders. This is partly because nearly 80% of rare diseases have a genetic basis, making them natural test beds for genomic approaches. These breakthroughs laid the groundwork for innovations now applied broadly across other areas of healthcare, including more common non-communicable diseases (NCDs) such as cancer, cardiometabolic disorders and infectious diseases.

Emerging technologies are following a similar trajectory. Artificial intelligence, for example, is being tested in rare diseases because the challenges of small populations, fragmented data and complex phenotypes require new analytical approaches. Early work using large language models by the Vanderbilt University Medical Centre to shorten diagnostic journeys and strengthening pattern recognition by Harvard Medical School shows how rare diseases continue to push the frontier of what is scientifically possible.

Progress is not limited to science and technology. Rare diseases are also driving major advances in regulation, policy and governance, such as the adoption of a new Rare Disease Resolution at the World Health Assembly in 2025.

The resolution urges governments to integrate rare-disease policies in national health plans, expand newborn screening and timely diagnosis and guarantee affordable access to medicines and assistive technologies under universal health coverage. It also encourages investment in digital tools, patient registries and centres of excellence, while promoting the active participation of patient organizations in policy design.

Together, these scientific and policy innovations demonstrate how rare diseases repeatedly create the conditions for breakthroughs that later scale across the entire health system.

Even with recent advances, innovation is needed across the full rare-disease care pathway, accelerated approvals, adaptive trial designs and cross-border data frameworks. Existing gaps include patients being underserved by standard health-system policies, lack of available or timely information and limited or non-existent treatment options. These gaps create innovation opportunities in:

History consistently shows that once a tool, platform or regulatory approach proves viable in rare diseases, it often scales rapidly to more common conditions across NCDs. But as future innovations emerge, their success will depend on a common foundation: better data.

Knowing how many people live with a rare disease, where they are located, how they are diagnosed and what outcomes they experience is essential for research, clinical care, system planning and investment. Today, this information exists in a meaningful way only in a handful of high-income countries.

Better data can reveal where targeted investments deliver the greatest returns, reduce avoidable healthcare spending, strengthen productivity and economic resilience and accelerate innovations that ultimately benefit entire health systems. A new global approach is needed – one that makes a core set of rare disease data discoverable and usable for researchers, clinicians, innovators and policy-makers across borders. An approach that improves the lives of people living with rare diseases and can benefit the wider health ecosystem.

The World Economic Forum’s Health for All Initiative is convening a new Rare Disease Community to advance this agenda. We invite stakeholders across sectors to join this effort, with the first milestone coming in Q1 2026 through the launch of a new white paper on strengthening the global data foundation for rare diseases.