Biomarkers and personalized medicine in rare diseases

Abstract

Rare diseases differ from common diseases, beyond their low prevalence. Biomarkers are characterized as useful tools to objectively identify and evaluate normal biological processes, pathological processes, or the pharmacological response to therapeutic or other healthcare interventions. As biological determinants of human disease biomarkers are of special interest for the study of diseases and to monitor the therapeutic responses of new drugs. In the field of rare diseases, genetic and genomic biomarkers are essential to determine the primary mutation and genomic profile but, as with common complex diseases, both biochemical biomarkers and the dynamic and functional omic profiles are fundamental to design the personalized medicine for patients with rare diseases.