Rare Diseases in Global Health

Yes, Rare diseases can become a priority in global health

This year could be the opportunity to give People Living With a Rare Disease (PLWRD) the recognition they deserve in Global Health. The next World Health Assembly (WHA) of the World Health Organization (WHO) will take place in May 2025. To clarify, a rare disease is a medical condition that affects fewer than or equal to 1 in 2000 persons living in any region of the world. The WHO defines the African Region, the Region of the Americas, the Eastern Mediterranean Region, the European Region, the South-east Asian Region and the Western Pacific Region.

The general population has a limited understanding of medical conditions with low frequency. Health professionals too. This is mainly due to the low number of affected individuals and the scarcity of data. PLWRD often experience prolonged periods without a diagnosis, and many remain undiagnosed. But even with a diagnosis, the clinical management of patients is often inadequate. Without sufficient knowledge, clinicians cannot assess the rare disease complexity and may be unaware of existing treatments. Moreover, treatment options for rare diseases are limited because research and development are not necessarily incentivised. Worldwide, Germany certainly occupies a privileged position in the assessment and reimbursement of medicinal products for rare diseases, the so-called orphan drugs.

It is estimated that we have 300 million people affected or undiagnosed worldwide. The burden of rare diseases on patients, but also on their families, healthcare systems, and society needs greater visibility. That is why Rare Disease International prepared a World Health Assembly Resolution on Rare Diseases.