Flaminia Macchia
COO, Orphanet AISBL
The lack of reliable data represents a major challenge in the rare diseases field, hampering diagnosis, definition of care pathways and therapy development.
Indeed, high-quality evidence is essential to take informed decisions on policies, research, innovation and care.
The Orphanet knowledge base aims to address data gaps, while its non-profit spin-off, Orphanet-AISBL, aims to customise the expert-curated data to stakeholders’ needs.
Global challenge aggravated by data gaps
Over 300 million people1 live with a rare disease worldwide. Most experience a long and difficult diagnostic journey and often don’t benefit from approved treatments. One major barrier is the persistent lack of structured, high-quality knowledge.
Information on epidemiology, clinical expertise, ongoing research or treatment options is limited, fragmented or simply unavailable, thus impacting patients, clinicians, policymakers and researchers, slowing decisions and shaping inequalities in care.
“Know the Rare for Better Care:” the knowledge base
To address this, the knowledge base was established with a clear belief: knowing rare diseases would lead to better care. We provide information on genes, epidemiology, clinical classifications, clinical care, patient organisations, research and orphan drugs.
This knowledge base has become a global reference for health professionals, researchers and public authorities, supporting scientific publications, codification, classification and national plans.
Turning data into knowledge complements clinical expertise and
lived experience to improve the collective knowledge of the rare disease ecosystem.
From data to evidence for decision-making
The rare disease field is evolving rapidly, and stakeholders need trusted data to inform their decisions: Which diseases have ongoing clinical research? Where are expert centres located? How many patients are estimated in a country?
The Orphanet-AISBL provides evidence-based answers through tailor-made services — including customised datasets, dashboards, tailored reports — leveraging the database, including knowledge on phenotypes, disabilities, classification, genes, epidemiological figures, orphan drugs, expert centres, diagnostic capabilities, clinical studies, patient organisations and registries.
Turning data into knowledge complements clinical expertise and lived experience to improve the collective knowledge of the rare disease ecosystem. We know that “knowledge is power”, and data can bring the power to diagnose better and quicker, reduce fragmentation and inequalities in care and support innovation.
[1] Wakap, S. et al. (2019). Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European Journal of Human Genetics.
