AI-Driven Drug Discovery for Rare Diseases

Rare diseases (RDs), affecting 300 million people globally, present a daunting public health challenge characterized by complexity, limited treatment options, and diagnostic hurdles. Despite legislative efforts, such as the 1983 US Orphan Drug Act, more than 90% of RDs lack effective therapies. Traditional drug discovery models, marked by lengthy development cycles and high failure rates, struggle to meet the unique demands of RDs, often yielding poor returns on investment. However, the advent of artificial intelligence (AI), encompassing machine learning (ML) and deep learning (DL), offers groundbreaking solutions. This review explores AI’s potential to revolutionize drug discovery for RDs by overcoming these challenges. It discusses AI-driven advancements, such as drug repurposing, biomarker discovery, personalized medicine, genetics, clinical trial optimization, corporate innovations, and novel drug target identification. By synthesizing current knowledge and recent breakthroughs, this review provides crucial insights into how AI can accelerate therapeutic development for RDs, ultimately improving patient outcomes. This comprehensive analysis fills a critical gap in the literature, enhancing understanding of AI’s pivotal role in transforming RD research and guiding future research and development efforts in this vital area of medicine.