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Turning rare disease data into actionable knowledge

Orphanet-AISBL is a non-profit organization transforming the world’s most trusted rare disease data into reliable, ready-to-use knowledge – to address the needs of pharmaceutical companies, researchers, policymakers, consultancies, CROs, and patient communities worldwide.

Built on over 25 years of Orphanet expertise and more than five million expert-curated data points, we connect and equip all stakeholders to make evidence-based decisions, accelerate innovation, and drive measurable impact across the rare disease ecosystem.

Why we exist

Bridging the rare disease data gap

With approximately 7,000 rare diseases, data remain scarce, fragmented, and scattered across systems and countries. It is therefore challenging to transform this limited information into usable knowledge.

We also all know that in the field of rare diseases, every decision can be lifesaving and life-transforming for patients. Therefore, high-quality expert-curated data is an absolute must to inform these decisions.

That’s why we created the Orphanet-AISBL – to leverage the over five million combined data from the Orphanet knowledgebase and turn them into actionable insights that inform science, policy, and care.

Commitment to Institutional Reliability and Long-Term Public Value

The mission of Orphanet-AISBL is aligned with overarching public-interest objectives: strengthening the evidence base available to actors in the rare-disease sector, improving the coherence of scientific and policy activities, and ultimately contributing to better outcomes for affected populations.

By ensuring the provision of reliable, expert-curated knowledge, Orphanet-AISBL supports the development of informed, accountable, and transparent decision-making processes at local, national, and international levels.

The organisation remains committed to maintaining its role as a neutral, scientifically rigorous provider of knowledge in service of the rare-disease community and the broader public good.

A Mandate Framed by Scientific Rigor and Public-Interest Obligations

Orphanet-AISBL operates within an institutional framework that prioritises neutrality, transparency, and scientific robustness. Its core function is to transform scarce, heterogeneous rare-disease data into harmonised, validated knowledge suitable for operational use.

This transformation process follows an established sequence:
from raw data, to curated knowledge, to actionable evidence. Each stage is governed by strict quality requirements designed to guarantee reliability, traceability, and methodological coherence.

By ensuring consistency and standardisation, Orphanet-AISBL contributes to strengthening national and international rare-disease initiatives, supporting evidence-based policymaking, enabling regulatory assessments, and informing the development of research and care strategies.