Global perspectives on rare and orphan diseases: Prevalence, impact, and diagnostic challenges

Rare and orphan diseases affect a minor segment of the population but represent a significant global health challenge due to their diversity and the specialized care required. This study offers a comprehensive global perspective by examining the prevalence, impact, and policy responses concerning rare and orphan diseases. Utilizing a mixed-method approach, data was gathered from global health databases and interviews with healthcare professionals and policymakers. The findings underscore the gaps in current healthcare systems and highlight successful strategies implemented in various countries. The study continues with a discussion of the implications of the disease for public health policy and recommendations for future research to meet the unresolved requirements of patients with orphan and rare diseases.