Precision Medicine and Osteopetrosis: Transforming Care Through Genomics
A Genomic Approach to Rare Bone Disease
DOI:
https://doi.org/10.58445/rars.3286Keywords:
precision medicine, osteopetrosis, genomics, hematopoietic stem cell transplantation, rare diseases, gene therapy, health equityAbstract
Precision medicine leverages genomic, environmental, and clinical data to individualize patient care. This paper examines how precision medicine reshapes the patient journey for osteopetrosis, a rare genetic bone disease characterized by impaired osteoclast-mediated bone resorption. Using an integrated framework of screening, diagnosis, treatment, and management, this study demonstrates how genomic technologies, targeted therapies, and equity-oriented strategies are redefining outcomes in rare-disease care. Osteopetrosis exemplifies the power of molecular diagnostics and precision therapeutics to convert a historically fatal disorder into a manageable, and potentially curable, condition. The discussion highlights next-generation sequencing, hematopoietic stem-cell transplantation, and emerging gene therapies as the key innovations guiding this transformation.
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