Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases

Abstract

Rare diseases affect hundreds of millions of individuals worldwide, primarily resulting from genetic factors, with many presenting during childhood. Advances in genome sequencing increasingly enable identification of the responsible gene in more patients; however, only a limited selection of therapies exists to correct or mitigate the underlying genetic defect. This overview delineates the interconnected aspects of diagnosis, evidence generation, treatment, and long-term safety monitoring within an integrated framework. It also posits that the molecular mechanism underlying a disorder, rather than its clinical label, determines both the diagnostic test to be employed and the potential treatment options that may be effective.