Biomarkers for Rare Disease Diagnosis and Treatment

Biomarkers facilitate early diagnosis, monitor disease progression, and measure treatment responses in rare diseases. Advances in proteomics, genomics, and metabolomics have expanded the range of detectable biomarkers. The integration of biomarkers in clinical trials enhances the development of targeted therapies and improves endpoint measurements. Research into biomarker validation and application is vital for translating scientific discovery into clinical practice and optimizing personalized treatment strategies.

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