This insight brief examines the far-reaching impact of rare diseases on patients, providers, and life sciences companies in the U.S. healthcare system. It highlights the significant burden patients face, including delayed diagnosis, limited treatment options, and fragmented care pathways, while providers often struggle with low disease awareness and insufficient data. For life sciences companies, rare diseases present both challenges and opportunities due to small patient populations, complex evidence needs, and evolving access requirements. The brief emphasizes the importance of advancing diagnosis and care through collaboration with disease experts, integration of diverse data sources, and use of advanced analytics. AI and machine learning play a growing role in identifying undiagnosed p

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