Congenital Hyperinsulinism in the Era of Precision Medicine: Genetically Driven Diagnosis and Novel Therapies

Aggregator

27 Oct 2026 0 comments

CONCLUSIONS: Precision medicine is increasingly transforming CHI from a predominantly phenotype-based disorder into a genetically informed clinical entity. Integration of genomic testing with clinical phenotyping and functional assessment can improve diagnostic classification and individualize management. Continued genomic discovery, functional validation, and international collaboration will be important for patients who remain without a molecular diagnosis and for developing mechanism-based...