Rare Disease Research and Orphan Drugs

Rare Disease Research and Orphan Drugs Rare diseases, often referred to as orphan diseases, are a diverse group of disorders that individually affect a small fraction of the population but collectively impact millions worldwide. Despite their low prevalence per condition, the cumulative burden of Rare diseases, is substantial, touching nearly every system of the human body and posing major medical, social, and economic challenges. Rare diseases are usually defined based on prevalence thresholds that vary between regions: in the Rare diseases, is one that affects fewer than 200,000 individuals at any given time, while in the European Union, the definition is fewer than 1 in 2,000 people. However, the rarity of each condition makes research, diagnosis, and treatment development inherently difficult, leading to significant gaps in healthcare access and innovation. These diseases are often chronic, progressive, disabling, and life-threateni...