Pharmaceutical Management of Rare Diseases

Pharmaceutical Management of Rare Diseases: Challenges, Innovations, and Future Directions Introduction Defined as conditions affecting fewer than 1 in 2,000 individuals in the European Union (EU) or fewer than 200,000 people in the U.S., these diseases present unique challenges in diagnosis, treatment, and pharmaceutical management. Despite their rarity, advancements in biotechnology, genomics, and regulatory frameworks have spurred progress in developing therapies for these conditions. This article explores the complexities of managing rare diseases pharmacologically, emphasizing current strategies, innovations, and barriers to equitable patient access. Understanding Rare Diseases: Definition, Epidemiology, and Burden Rare diseases encompass over 7,000 identified conditions, including cystic fibrosis, Huntington’s disease, and amyotrophic lateral sclerosis (ALS). Approximately 80% are genetic in origin, while others result from infections, e...