From data to knowledge
From knowledge to impact
Our mission is to support all stakeholders – from researchers, pharma, and biotech to policymakers and patient organizations in making evidence-based decisions at all stages and accelerating the innovation they bring to patients.
The rare disease domain is structurally constrained by limited, fragmented, and non-harmonised data. With approximately 7,000 recognised rare diseases, available information remains dispersed across jurisdictions, institutional systems, and methodological frameworks. This fragmentation hinders the development of coherent analyses, obstructs comparability, and impedes the formulation of adequately informed decisions.
Its mission is to ensure that stakeholders operating in scientific, clinical, regulatory, and policy environments have access to reliable, expert-curated knowledge that conforms to recognised standards of methodological integrity and accuracy.
This mandate applies equally to research institutions, pharmaceutical and biotechnology entities, clinical actors, competent authorities, and patient organisations.
Provision of knowledge that truly supports decisions
Through the consolidation and expert curation of rare disease data, Orphanet-AISBL produces outputs that meet the requirements of entities engaged in research, health-system planning, regulatory evaluation, and strategic decision-making. In particular, the organisation enables stakeholders to:
Obtain precise, contextually grounded information in response to defined research, clinical, or policy questions;
Combine internal datasets with expert-curated Orphanet data to improve analytic robustness and interpretative clarity.
Rely on validated, structured knowledge to support the design and implementation of programmes, policies, and interventions.
These activities ensure that data transforms into actionable evidence, thereby reducing uncertainty and facilitating coherent action across the rare disease landscape.
Commitment to providing reliable knowledge
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 persons living with rare diseases.
By ensuring the provision of reliable, expert-curated knowledge, Orphanet-AISBL supports the development of informed and transparent decision-making processes at local, national, and international levels.
Orphanet-AISBL remains committed to maintaining its role as a neutral, scientifically rigorous provider of knowledge in service of all players in the rare-disease ecosystem.
A mandate framed by scientific rigour
Orphanet-AISBL operates within an institutional framework that prioritises neutrality, transparency, and scientific robustness. Its core function is to expand the impact of the rich Orphanet knowledge base to better serve and support its operational use, e.g., transform data into actionable knowledge.
This transformation process requires Orphanet and its AISBL to follow an established sequence: from raw data – to curated data – to actionable knowledge and generation of evidence for decision-making. 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.