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Abstract/Summary
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Improving health and social equity for persons living with a rare disease (PLWRD) is increasingly recognized as a
global policy priority. However, there is currently no international alignment on how to define and describe rare
diseases. A global reference is needed to establish a mutual understanding to inform a wide range of stakeholders
for actions. A multi-stakeholder, global panel of rare disease experts, came together and developed an Operational
Description of Rare Diseases. This reference describes which diseases are considered rare, how many persons are
affected and why the rare disease population demands specific attention. The operational description of rare
diseases is framed in two parts: a core definition of rare diseases, complemented by a descriptive framework of rare
diseases. The core definition includes parameters that permit the identification of which diseases are considered
rare, and how many persons are affected. The descriptive framework elaborates on the impact and burden of
rare diseases on patients, their caregivers and families, healthcare systems, and society overall. The Operational
Description of Rare Diseases establishes a common point of reference for decision-makers across the world who
strive to understand and address the unmet needs of persons living with a rare disease. Adoption of this reference
is essential to improving the visibility of rare conditions in health systems across the world. Greater recognition of
the burden of rare diseases will motivate new actions and policies to address the unmet needs of the rare disease
community.
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