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.
our
mission
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.
From Data
to Knowledge
From Knowledge
to Impact
Through Orphanet-AISBL, we turn expert-curated data into tailor-made products and services, enabling you to:
- Answer specific research or policy questions
- Combine your own data with Orphanet’s datasets for deeper insight
- Derive trusted knowledge that supports real-world action
This is the shortest path from data to knowledge.
Our vision:
impact
Our vision is to bridge the knowledge gap and connect stakeholders, fostering a more inclusive, data-driven rare disease ecosystem.
Building a
connected,
data-driven
rare disease ecosystem
By shortening the path from scattered data to accurate results, we aim to:
- Accelerate evidence-based decision-making
- Boost research and development efficiency
- Promote collaboration and transparency across sectors
Ultimately, our goal is to make data a shared resource for progress, enabling faster innovation and better outcomes for rare disease patients.
What we
offer
Tailor-made
data services
for your needs
Our offer includes:
- Access to curated data platforms
- Custom data visualizations
- Tailored datasets
- Data integration and harmonisation
- Dashboards
- Advanced analytics
- Research support
- Tailored stakeholder reports
- Policy briefs
- Policy & strategy consulting
- Expert training and capacity-building
Our value
proposition
Our value proposition is summarized in three words: Time – Information – Impact.
Through these services, we help you:
- Accelerate research and innovation
- Support evidence-based advocacy and decision-making
- Enable well-informed policy development
- Support equitable access to knowledge, thus more equitable access to care
- Strengthen collaboration across the ecosystem
Who we
work with
Our solutions are highly flexible and designed for both non-experts and advanced data users.
A broad
community
of rare disease stakeholders
Typical partners and clients include:
- Biotech and pharma companies,
- Health-tech firms,
- Charities, foundations,
- Patient organizations,
- Health authorities,
- Research funders,
- Consultants,
- CROs
- ERNs
Because every partner’s needs are unique, our pricing model adapts to:
- The level of customization required
- The complexity of your request
- The preferred format and mode of delivery
Get
involved
We are finalizing our service catalogue and pricing, and we invite all stakeholders to help shape this next phase.
Shape
the future
of rare disease
knowledge
You can:
- Contact us directly to explore use cases or co-design your own solution
- Join our consultation by completing the online survey (QR code provided)
- Partner with us to pilot new, data-driven services for your organization
Together, let’s build the future of rare disease research, innovation, and evidence-based decision-making.
Governance
The Orphanet-AISBL is governed by three main bodies ensuring transparency, accountability, and effective management.
- The General Assembly, composed of all Full and Associated Members, defines the overall orientation of the Association, approves the annual report and budget, and appoints the Board of Directors.
- The Board of Directors provides strategic oversight and ensures the implementation of Orphanet-AISBL’s mission and objectives.
- The Secretary General is responsible for the daily management of the Association and represents it in all operational matters.
Operations
Chief Operating Officer (COO)
The COO implements the organisation’s strategy and oversees the development of Orphanet-AISBL’s services in line with stakeholder needs. In close collaboration with the Board of Directors, the COO defines priorities, represents the organisation towards partners and users, and contributes to a long-term strategic plan that ensures growth and success.
Have your say in shaping the services we provide
The Orphanet-AISBL is committed to developing services that transform expert-curated rare disease data into actionable knowledge for patients, foundations, industry, biotech, researchers, healthcare professionals, consultants, CROs, and policymakers. To ensure that our activities truly respond to your needs and expectations, we invite you to take part in this short survey. Your feedback will help us shape our priorities, refine our services, and strengthen our contribution to the rare disease community.
