The Moonshot approach is advancing rare disease R&D

The Moonshot approach is advancing rare disease R&D

The Rare Disease Moonshot, launched in 2022, set an ambitious objective to accelerate progress for people living with rare diseases by shortening the journey to diagnosis, bridging the gap between scientific discovery and treatment, accelerating the development of transformative therapies and addressing the persistent “white spots” where gaps in knowledge, data, research and investment continue to hamper progress. Public-private collaborations that challenge established R&D models are at the heart of its approach.

As the Rare Disease Moonshot approaches the fifth year of its initial five-year term, there are encouraging signs that this mobilisation around collaboration is bearing fruit. Rare diseases remain the direct focus of dedicated initiatives while increasingly benefiting from broader research, technology and infrastructure programmes.

Europe’s research-based pharmaceutical industry contributes to this progress well beyond the development of medicines. Companies invest, partner and share expertise with academia, healthcare systems, patient organisations and public institutions. The examples below illustrate how these contributions support the Moonshot’s three missions and help address the remaining “white spots”.

1. Knowledge generation:

Limited understanding of disease mechanisms, epidemiology and natural history remains a fundamental barrier to progress, particularly for very rare and poorly characterised conditions. Industry supports natural history studies and registries, genomic and multi-omics research, data collection and curation, interoperability and collaborative research into disease biology. Industry helps build this knowledge which underpins diagnosis, clinical trial design, identification of meaningful endpoints and the evidence required for regulatory and HTA.

Examples include:

- TRACK-FA: https://www.monash.edu/medicine/trackfa

- Together4RD: https://together4rd.eu

- OpnMe: https://www.opnme.com

2. Transition from research to development:

Promising discoveries often originate in universities, hospitals and small biotechnology companies, but moving from discovery to a viable development programme remains challenging. Industry contributes risk capital, scientific and development expertise, regulatory insight, manufacturing capabilities and operational know-how. It also supports spinouts and innovation ecosystems that can turn early scientific discoveries into development opportunities. In doing so, industry helps de-risk research and move promising science towards clinical development.

Examples include:

- The Berlin Center for Gene and Cell therapies: https://www.bc-gct.com

- RealiseD: https://realised-ihi.eu

- EU-X-CT: https://eu-x-ct.eu

3. Expansion of therapeutic options:

Investment in modular technologies and different therapeutic modalities - including mRNA, gene therapy and gene-editing approaches - creates capabilities that can be applied across diseases rather than to a single medicinal product only. Collaborative research networks and academic-industry partnerships also support the identification of novel targets and new therapeutic approaches. This is particularly important in rare diseases, where reusable technologies and shared capabilities can make development possible for very small patient populations.

Examples include:

- The Bespoke Gene Therapy Consortium: https://ncats.nih.gov/research/research-activities/gene-targeted-therapies/bgtc-bespoke-gene-therapy-consortium

- ARDAT: https://ardat.org

4. Faster and more accurate diagnosis:

Investment in genomics, data-driven technologies, AI-supported tools, genetic testing, data harmonisation and disease classification help shorten the diagnostic journey and strengthen the evidence base for research. Collaborative initiatives such as Screen4Care illustrate how public-private partnerships can combine genetic newborn screening and digital technologies to explore new approaches to diagnosis. Better diagnosis enables epidemiological understanding, patient identification, study recruitment, natural history evidence and earlier intervention.

Examples include: Screen4Care: https://www.screen4care.eu

5. Scaling technologies and capabilities:

Rare diseases are frequently at the forefront of advanced therapeutic innovation. Investment in shared technologies, data and capabilities creates assets that can be applied across diseases and development programmes. ADDoPT demonstrated how industry and academia can jointly develop digital design and manufacturing tools to make medicines production more efficient, flexible and reliable. Ligand-AI applies the same collaborative approach earlier in R&D by creating shared, open and AI-ready infrastructure to explore understudied biology and support new drug discovery programmes. Both illustrate how public-private collaboration can build capabilities at a scale that no single organisation could readily achieve alone.

Examples include:

- Ligand-AI: https://www.ihi.europa.eu/projects-results/project-factsheets/ligand-ai

- ADDoPT: https://www.addopt.org/

Conclusion

Together, these five dimensions help turn knowledge into diagnosis, discoveries into development, and new technologies into treatments. They also build knowledge, methods and capabilities that can benefit many rare diseases, including those where patient populations are very small.

Much of this progress depends on collaboration. By working together in high-risk and pre-competitive areas, industry, academia, patients and public partners can reduce scientific uncertainty and develop shared approaches that no single actor could deliver alone. Initiatives such as IHI RealiseD show how this can help develop clinical trial and evidence-generation methods adapted to rare and ultra-rare diseases.

Europe now needs to sustain this momentum. A competitive R&D environment, strong European Reference Networks and policies that recognise the specific challenges of rare diseases — from the Biotech Act to implementation of the EU HTA Regulation — are essential. Above all, sustained public-private collaboration will be needed to bring new medicines to patients and continue addressing the remaining rare disease “white spots”.

See here (link) a list of different national and international initiatives aligned with Moonshot spirit (public-private collaborations to erase RD white spots).