‘Rare is not rare’
New scientific paper confirms 300 million people living with a raredisease worldwide
Paris, 17 September 2019 - A new scientific paper confirms the number of people living with a raredisease is estimated at 300 million worldwide. The open-access article, written by Orphanet(coordinated by INSERM, the French National Institute of Health and Medical Research), EURORDISRare Diseases Europe and Orphanet Ireland (based at the National Rare Diseases Office, Mater
Misericordiae University Hospital, Dublin, Ireland), is today published in the European Journal of
Human Genetics.
According to the research published in the paper, rare diseases currently affect at any point in time
3.5% - 5.9% of the worldwide population, equivalent to a conservative estimate of 300 million
people worldwide (4% of the an estimated world population of 7.5 billion1), the number used until
now by EURORDIS and Rare Diseases International. The analysis shows that there are over 6,000
clinically defined rare diseases2, 72% are genetic, and of those 70% of rare diseases start inchildhood.
This is the first time that a robust analysis of the global prevalence of rare diseases has been
conducted using the publicly available epidemiological data in the Orphanet (www.orpha.net)
database. The figures presented in the paper are derived from data from 67.6% of the prevalent rarediseases. As this analysis does not take into account rare cancers, nor rare diseases caused by rarebacterial or viral infectious diseases and poisonings, the number of people affected by rare diseases
is likely considerably higher.
Ana Rath, co-author of the paper, Director of Orphanet, stated, “Even if these are the best figures we
can obtain today, they likely underestimate the number of rare disease patients still not visible inhealthcare and social care systems. Having a specific codification system for them in national systems
will help obtain definitive figures and, more importantly, produce data needed to adapt healthcaresystems”.
Yann Le Cam, co-author of the paper, Chief Executive Officer of EURORDIS and member of theCouncil of Rare Diseases International, commented, “Collectively rare diseases are not rare. Thefindings published in this paper support years of efforts from the rare disease community to advocate
for the prioritisation of rare diseases as a public health priority that affects millions of people aroundthe world, not just the few. No one can deny the significance of the global rare disease population
anymore, a critical mass of people who have been the health orphans so far, with acute needs for

1 Nguengang Wakap S et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European Journalof Human Genetics, 2019. Worldwide population in 2017 of an estimated 7 550 000 000 people.
2 In Europe, a disease is defined as rare when it affects no more than 1 in 2,000 people, as per the Regulation (EC) N°141/2000 of theEuropean Parliament and of the Council of 16 December 1999 on orphan medicinal products. 2000.

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betterhealthcare, access to innovative treatments and a social system that supports their right to reach theirhighest potential of well-being”.
Findings presented in the paper, based on the analysis of the 67.6% of the prevalent diseases, includethat:

149 rare diseases analysed affect around 80% of the rare disease population. These diseases
are the most prevalent among the diseases, with each affecting 100 – 500 people per 1million.

The next most prevalent 241 rare diseases analysed affect 10 – 100 people per 1 millionpeople.

Collectively, these nearly 400 diseases affect at least 98% of the rare disease population witha prevalence of 10 – 500 people per 1 million people. They can be grouped by therapeuticareas and care services built around these therapeutic areas.

The remaining diseases analysed are the less prevalent diseases as they affect less than 10people per 1 million people.

Building on these important data, the analysis will be developed in the future to cover rare diseases
caused by infectious agents, environmental factors, bacteria or viruses, poisoning and rare cancers;
and to deepen the research for around 24 rare disease groupings (mirroring the grouping adopted for
the European Reference Networks), all with the aim to ultimately help inform health and social careplanning for people living with a rare disease and their families and to streamline research on rarediseases. Future registry research and the implementation of rare disease codification in healthcare
systems will further refine the estimates.

Read the publication:
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
https://www.nature.com/articles/s41431-019-0508-0

To cite the publication:
Nguengang Wakap S, Lambert D M, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y, Rath A.
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European Journalof Human Genetics, 2019
DOI
https://doi.org/10.1038/s41431-019-0508-0

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About Orphanet – INSERM
Orphanet is a unique resource, gathering and improving knowledge on rare diseases so as to improve thediagnosis, care and treatment of patients with rare diseases. Orphanet aims to provide high-quality information
on rare diseases, and ensure equal access to knowledge for all stakeholders. Orphanet also maintains theOrphanet rare disease nomenclature (ORPHA number), essential in improving the visibility of rare diseases inhealth and research information systems. The Orphanet Network, 39 countries across the world contributing to
the aforementioned goals, is coordinated by INSERM.
The integral role played by Orphanet in the research and care spheres has led to its recognition as an IRDiRC
Recognised Resource, and integration in the French node of ELIXIR, a European research infrastructure uniting
Europe's leading life science organisations. Orphadata, Orphanet's data download platform, and the Orphanet
Rare Disease Ontology, are ELIXIR Core Data Resources.

About EURORDIS-Rare Diseases Europe
EURORDIS-Rare Diseases Europe is a unique, non-profit alliance of over 800 rare disease patient organisations
from over 70 countries that work together to improve the lives of the 30 million people living with a rare diseasein Europe.
By connecting patients, families and patient groups, as well as by bringing together all stakeholders andmobilising the rare disease community, EURORDIS strengthens the patient voice and shapes research, policies
and patient services.

About the National Rare Diseases Office of Ireland
The National Rare Diseases Office provides current and reliable information about genetic and rare diseases topatients, families and healthcare professionals in Ireland. The office was established in 2015 by the Irish HealthService Executive and is staffed by healthcare professionals who have significant experience working withpeople affected with rare diseases. The office identifies and catalogues Irish rare disease resources on Orphanet;
provide evidence based information services; and build links with ERNs. The website(http://www.rarediseases.ie/) provides information about national social care supports, educational resourcesand eLearning modules.

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