Document Type
Article
Publication Date
9-11-2024
Original Citation
Wang C,
Whiting A,
Rath A,
Anido R,
Ardigò D,
Baynam G,
Dawkins H,
Hamosh A,
Le Cam Y,
Malherbe H,
Molster C,
Monaco L,
Padilla C,
Pariser A,
Robinson P,
Rodwell C,
Schaefer F,
Weber S,
Macchia F.
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases. Orphanet J Rare Dis. 2024;19(1):334
Keywords
JGM, Rare Diseases, Humans
JAX Source
Orphanet J Rare Dis. 2024;19(1):334
ISSN
1750-1172
PMID
39261914
DOI
https://doi.org/10.1186/s13023-024-03322-7
Abstract
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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