In the European Union (EU), rare diseases, including those of genetic origin, are life-threatening, chronically debilitating and of low prevalence. Low prevalence means they affect a small portion of the population, less than 5 per 10,000 EU citizens. However, between 6,000 and 8,000 distinct rare diseases are estimated to exist today, and although one rare disease may affect only a few patients, others may affect as many as 245,000. Therefore, the numbers add up, and this means that in the EU, between 27 and 36 million people live with a rare disease, and half a million people are diagnosed with a rare disease every year. Around 80% of rare diseases are of genetic origin, and 70% of rare diseases start in childhood. Health systems aim to provide high-quality, cost-effective care; however, this is particularly challenging for rare or low-prevalence complex diseases and conditions. Clinicians face challenges in diagnosing and treating patients due to limited knowledge, information, and exposure to uncommon symptoms and disease mechanisms, meaning many patients have faced a diagnostic odyssey when searching for answers. Therefore, the EU’s strategic objective for rare diseases is to improve patient access to diagnosis, information, and care. It assists in pooling scarce resources spread across the EU, enabling patients and professionals to share expertise and information. One of the ways it has done this is by setting up and supporting European Reference Networks (ERNs).
Rare Diseases and Complex Conditions
