Rare Diseases in Global Health

Rare Diseases Worldwide

This year, People Living With a Rare Disease (PLWRD) have a chance to get the recognition they deserve in Global Health. To clarify, a rare disease is a medical condition that affects fewer than or equal to 1 in 2,000 persons living in any region of the world. The World Health Organization (WHO) classifies countries in six groups: 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. It is estimated that rare diseases affect 300 million persons globally.

The general population has a limited understanding of rare diseases. Most health professionals are not aware of them. 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.