Rare diseases
Rare diseases, also known as orphan diseases, represent a significant global health challenge and affect a substantial portion of the world's population. The global prevalence of orphan diseases is estimated to be between 3.5% and 5.9% of the population, which translates to approximately 263 to 446 million people worldwide. In the United States alone, more than 30 million people are affected by rare diseases and in the European Union (EU), it is estimated that between 27 and 36 million people live with a rare disease. According to the latest research, rare diseases encompass a spectrum of more than 10,000 different disorders, which makes them a complex and multifaceted area of healthcare. The vast majority of these diseases, around 80%, have a genetic origin. This genetic basis presents challenges for diagnosis, treatment, and management, as many rare diseases require specialized care and genetic testing for accurate identification.
Rare cancers
In the European Union, rare cancers are classified as diseases that affect less than 5 out of 10,000 people. Rare cancers impact over 5.1 million people in the EU and UK, with 650,000 new cases each year. While each of the 198 identified rare cancers is individually classified as “rare,” together they make up approximately 24% of cancer cases in the EU27 + the United Kingdom annually. They contribute significantly to the number of deaths related to cancer. All childhood cancers are grouped in this category because of their low frequency. Limited clinical experience, lack of standardized treatment protocols, and the need for specialized care make diagnosing and treating rare cancers challenging.
