Scientific Journey from Coal to Diamond: Myths and Misperceptions in Rare Disease Innovation 

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An article by Jennifer Schranz, Senior Vice President and Global Head of Rare Diseases at Ipsen

In storytelling, you might hear of a superhero who squeezes coal with immense strength and heat, instantly creating a flawless diamond. While fiction, it’s true that diamonds are rare and formed under precise conditions over millions of years. For me, this analogy resonates deeply with the development of rare disease medicines—an arduous, highly complex, and time-intensive process that transforms scientific discovery into potentially life-changing treatments. 

At the Orphan Drug and Rare Disease (ODRD) Congress, I addressed the myths and challenges surrounding rare disease innovation. More importantly, I spoke about how we, as an industry, must collaborate to ensure people living with rare diseases have access to the treatments they urgently need. Rare disease drug development is uniquely complex—marked by small patient populations, unclear clinical endpoints, and slow recruitment. Yet, there are other barriers that lie beyond the laboratory: regulatory frameworks, pricing, and reimbursement policies that do not fully account for the distinct challenges of rare disease R&D. 

Of the more than 10,000 known rare diseases, 95% still lack an approved treatment.¹ For patients and families, every breakthrough represents more than just a therapy—it offers hope, better quality of life, and more time with loved ones. Yet, financial and structural barriers can slow innovation and limit access to treatments. Without a proactive approach, progress will remain out of reach for too many. 

Developing a rare disease medicine is like mining for diamonds—nature may create something extraordinary, but extracting and refining it requires immense effort. Just as only a small percentage of mined diamonds are suitable for fine jewelry, many promising drug candidates never reach those who need them. This is why we must rethink how we develop and evaluate treatments for rare diseases. 

To bring more treatments to people with rare diseases, we need a shift in how we approach drug development. A case-by-case model for each disease is unsustainable. Instead, we must embrace innovation across three key areas: 

• Research & Development: Basket trials, molecular-based disease clustering, and pathway-driven approaches can help unify small patient populations, improve trial recruitment, and strengthen study power. 

• Regulatory Science: Regulatory policies must evolve to accommodate new trial designs, adjust orphan drug designation criteria, and integrate real-world data into approval pathways. 

• Health Economics & Market Access: New pricing models—such as multi-indication pricing, value-based pricing, or milestone-based performance pricing—can help make orphan drugs more accessible and sustainable. 

Across all of these, collaboration is key. By building strong partnerships between industry, academia, patient organizations, and regulators, we can develop a shared vision for rare disease innovation. The International Rare Diseases Research Consortium (IRDiRC) aims to support the development of 1,000 new rare disease therapies by 2027.² To get there, we need sustained investment, incentives, and fresh thinking about development and access. 

Incentives for orphan drug development have long supported rare disease innovation, fostering investment and research in this critical area. In recent years, many new treatments have emerged for rare diseases, yet shifting policies and evolving economic considerations could slow this momentum. 

A thriving research ecosystem doesn’t happen by chance—it requires careful nurturing. If incentives decline, we may see fewer translational research programs, slower clinical trials, and weakened industrial partnerships. This isn’t just about the pharmaceutical industry; it’s about ensuring people with rare diseases continue to have hope for new treatment options. 

What drives me most is making a real difference in the lives of people living with rare diseases—not just by developing treatments, but by ensuring they receive the support and access they deserve. The impact of rare diseases is profound, and we cannot afford to slow progress. 

So where do we go from here? Let’s create an environment that accelerates breakthroughs and prioritizes access. Like diamonds, every new therapy results from pressure, persistence, and the right conditions—let’s ensure these rare and valuable treatments reach the people who need them most.