Precision Medicine in RASopathies: Tailored Disease Management Through Enhanced Approaches, Disease Delineation, and Pathway-Specific Therapies

The paradigm of precision medicine has ushered in a transformative era in healthcare by applying molecular diagnoses to tailor therapeutic strategies for individuals with disorders in known pathways. Within this landscape, RASopathies represent a spectrum of genetic disorders rooted in germline pathogenic alterations in genes encoding proteins of the RAS/mitogen-activated protein kinase (MAPK) pathway. This chapter explores the interplay between genetic mutations, resultant clinical manifestations, and the evolving frontiers of targeted therapies within the realm of RASopathies.