For decades, research into rare diseases has been neglected compared to broader indications. There are many factors contributing to the lack of momentum in rare disease research: conducting clinical trials is difficult, gaining approval is hard, and drug development is expensive. The root cause of each barrier? That each rare disease affects a small population.
However, if all the people living with a rare disease (PLWRD) were brought together, the sum of 400 million individuals would exceed the population of the United States. For each of those individuals, their diagnosis has a life-altering, sometimes life-shortening, impact. Yet, only a handful of PLWRD have treatment options available.
In parts one and two of this interview series on barriers to rare disease treatment access, experts discussed challenges in drug development for PLWRD and why these barriers are critical to address.
To learn more about how we can make progress for PLWRD, Technology Networks asked an array of experts the same question: “What would you like to see in the 10-year global action plan for rare diseases to increase pharmaceutical development and access to treatment for PLWRD?”
Annabella Amatulli, MSc, Head of Regulatory Affairs, Enterprise Therapeutics
My vision for the future is to see rare diseases treated as a distinct category, not just in regulation but across the entire ecosystem. This means genuine global regulatory harmonization, where a single, well-designed clinical study can support approval worldwide.
I hope we can work toward an approach in which a dedicated market-access framework recognises the unique value of therapies beyond the traditional cost-effectiveness metrics, where approval translates into real patient access without years of delay. This would mean giving patients and their families a stronger voice in decision-making from trial design to health technology assessment.
Critically, it involves continuing to incentivize investment in this space. Most rare disease innovation comes from Biotechs, small to medium-sized enterprises, and start-ups taking enormous financial risks. Future policies must support companies that invest where there is both high need and high risk.
Christy Holt, MSc, Vice President of Marketing and Sales, iXCells Biotechnologies
A global commitment to making patient-derived disease models accessible to every research team working in rare disease, regardless of institution size or funding, is required. Too many programs fail not due to a lack of scientific talent but because the right tools simply aren’t available or accessible.
Beyond infrastructure, we need to see patient advocacy organizations recognized as true scientific partners, with a seat at the table in shaping research priorities. The science is advancing rapidly, and the 10-year opportunity is making sure that progress reaches the patients who need it most.
Muhunthan Thillai, MD, PhD, Chief Executive Officer and Co-founder, Qureight
Firstly, better integration with patient charities and advocacy groups—these groups have good access to databases of rare patients. Secondly, a better understanding of real-world data sets and better use of synthetic control arms in studies is needed.
Thomas Ybert, PhD, Chief Scientific Officer and Co-Founder, DNA Script
Throughout 2026 and beyond, programmable biology powered by enzymatic DNA synthesis will contribute to transformative change. Molecular DNA printers will allow clinical-grade DNA templates to be written and produced in just days, closer-to or at the point-of-care.
[This could] enable development of true N-of-1 mRNA-based and personalized therapies, manufactured for individual PLWRDs exactly when needed.