Personalized Medicine in Rare Pediatric Neurometabolic Diseases

摘要: Enormous advances in life sciences and molecular biology mean that research today generates massive amounts of data can potentially serve to advance the development individualized therapies. Such treatments are based on principles disease prevention, prediction, early diagnosis reliable monitoring therapeutic efficacy with goal providing personalized improve health individuals. The medicine is considerable importance for pediatric patient populations, represents a move away from use treatment dosages experience same compounds adults. Currently, however, we know little about developmental pharmacogenomics and, although many biomarkers available clinical research, there have been few applications management diseases. This chapter reviews requirements describes group diseases require such an approach. Personalized particularly relevant rare childhood diseases, life-threatening neurological known as lysosomal storage (LSDs) potential study population. genetic bases these disorders generally well defined, at birth or prenatally, several options under development.