New scientific paper confirms 300 million people living with a rare disease worldwide

A new scientific paper published in the European Journal of Human Genetics has confirmed that the number of people worldwide living with a rare disease is estimated at 300 million. This paper is co-authored by Orphanet (coordinated by INSERM, the French National Institute of Health and Medical Research), EURORDIS – Rare Diseases Europe and Orphanet Ireland.

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 ( database.

According to the research conducted, 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 an estimated world population of 7.5 billion), the number used until now by Rare Diseases International and EURORDIS. The analysis shows that there are over 6,000 clinically defined rare diseases, of which 72% are genetic, and of those 70% start in childhood.

Yann Le Cam, co-author of the paper, member of the Council of Rare Diseases International and Chief Executive Officer of EURORDIS commented,

“Collectively rare diseases are not rare. The findings 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 around the 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 better healthcare, access to innovative treatments and a social system that supports their right to reach their highest potential of well-being”.

Yann Le Cam, member of the Council of Rare Diseases International

Read the press release for this paper

Access the full paper here

Join us at the APARDO Summit 2019

Join us at the APARDO Summit 2019: Regional Collaborations for Global Change

Date: 19 – 21 October

Location: Taipei, Taiwan

Rare Diseases International is pleased to be a co-organiser in this event alongside the Asia Pacific Alliance of Rare Disease Organisations. The event aims to help patient advocates representing national and regional patient-centric organizations effectively deliver, share best practices, develop skills and adopt coordinated strategies for improving rare disease patient outcomes.

Join leading research organizations, public health agencies and the biopharma industry for this exciting three-day forum!

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19 October
All day session (8:30AM – 4:30PM)
  • Presentation on Regional and Global Rare Disease Policy Initiatives
  • Panel on Providing Better Access to Diagnosis and Treatment
  • Workshop on Policy Advocacy to Improve Conditions for Patiets

This session is organized jointly by APARDO, Taiwan Foundation for Rare Disorders and Rare Diseases International, followed by an internal meeting of APARDO members.

20 OCT
All day session (9:00AM – 6:30PM)
  • Newborn Screening for Genetic Disorders
  • Multidisciplinary Care for Rare Disease Patients
  • Experience of Rare Disease Programs in Asia
  • Overview of the APEC Rare Disease Action Plan

This session is organized jointly by Taiwan Foundation for Rare Disorders and Taiwan Human Genetics Society.

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21 OCT
TAIWAN GLOBAL HEALTH FORUM – afternoon session (1:30PM – 5:50PM)
Venue:  Taipei International Convention Center
The event is free, but a separate registration is required.
  • Genomic Perspective – Rare Disease Prevention and Care
  • Orphan Drugs and Medical Insurance

This session is hosted by the Ministry of Health and Welfare and Ministry of Foreign Affairs Taiwan.

Register Here