Comprehensive review of orphans drugs and neglected disease

Rare diseases, also referred to as "orphan diseases," present serious health challenges, especially for newborns, infants, and children under the age of five. These diseases, which are largely genetic (around 80%), affect a small percentage of the population globally—0.65% to 1% according to WHO. Definitions vary by region, with each area setting its own criteria for what constitutes a rare disease. Protozoan diseases such as Human African Trypanosomiasis, Chagas disease, and Leishmaniasis result in severe health issues, including chronic organ damage and death. Similarly, helminth infections, including soil-transmitted helminths, schistosomiasis, and lymphatic filariasis, impact millions worldwide, causing significant morbidity and disability. Diagnosing rare diseases is difficult due to limited knowledge and diagnostic tools. However, the advent of Next Generation Sequencing (NGS) has greatly improved the speed and accuracy of diagnosis. Genetic testing methods like Trio Exome Analysis, Whole Exome Analysis, Clinical Exome, and Targeted Gene Panels are instrumental in identifying genetic variations and aiding diagnosis. Developing treatments for rare diseases is challenging due to the small patient populations and high costs. Overcoming these hurdles requires enhanced international and regional collaboration, increased awareness and training for healthcare providers, and the creation of standardized diagnostic protocols. Adjusting clinical trial regulations to better address the unique needs of rare diseases, while maintaining safety and quality, is crucial for advancing treatment development.