Abstract
Precision medicine, driven by advances in next-generation sequencing (NGS) and genomics, is transforming the diagnosis and treatment of rare diseases. Rare diseases, often genetic, present unique challenges due to their low prevalence and the heterogeneity of symptoms. Precision medicine offers a promising solution by channeling therapies to an individual’s genetic profile, providing earlier diagnoses, and guiding treatment decisions. This review discusses the definition and prevalence of rare diseases, explores the challenges in their diagnosis and treatment, and highlights the potential of precision medicine through case studies and emerging technologies. Future directions include overcoming data integration challenges and fostering collaborations in bioinformatics and AI for improved therapeutic outcomes. Keywords: Precision Medicine, Rare Diseases, Next-Generation Sequencing (NGS), Genomics, Personalized Therapy.
Published Version
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