Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases
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 understandi...
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| Main Authors: | , , , , , , , , , , , , , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
11 September 2024
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| In: |
Orphanet journal of rare diseases
Year: 2024, Volume: 19, Pages: 1-6 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/s13023-024-03322-7 |
| Online Access: | Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s13023-024-03322-7
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| Author Notes: | Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, Roberta Anido, Diego Ardigò, Gareth Baynam, Hugh Dawkins, Ada Hamosh, Yann Le Cam, Helen Malherbe, Caron M. Molster, Lucia Monaco, Carmencita D. Padilla, Anne R. Pariser, Peter N. Robinson, Charlotte Rodwell, Franz Schaefer, Stefanie Weber and Flaminia Macchia |
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| 245 | 1 | 0 | |a Operational description of rare diseases |b a reference to improve the recognition and visibility of rare diseases |c Chiuhui Mary Wang, Amy Heagle Whiting, Ana Rath, Roberta Anido, Diego Ardigò, Gareth Baynam, Hugh Dawkins, Ada Hamosh, Yann Le Cam, Helen Malherbe, Caron M. Molster, Lucia Monaco, Carmencita D. Padilla, Anne R. Pariser, Peter N. Robinson, Charlotte Rodwell, Franz Schaefer, Stefanie Weber and Flaminia Macchia |
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| 520 | |a 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. | ||
| 650 | 4 | |a Coding | |
| 650 | 4 | |a Definition | |
| 650 | 4 | |a Diagnosis | |
| 650 | 4 | |a Healthcare systems | |
| 650 | 4 | |a Prevalence | |
| 650 | 4 | |a Rare diseases | |
| 650 | 4 | |a Research and development | |
| 650 | 4 | |a Social care | |
| 650 | 4 | |a Universal health coverage | |
| 650 | 4 | |a Visibility | |
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