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[Rare diseases in post-genomic era.]

The Human Genome Project and the "-omics" technologies will in future provide genetic maps and biosynthetic pathways permitting personalized medical interventions directed at maintaining or restoring wellbeing. This is reflected in the strategy aims of 4P medicine in being: predictive, preventive, personalized, and participatory. The results obtained in the field of cystic fibrosis, with the cloning of CFTR gene, and use of Kalydeco®, have demonstrated how using the mentioned strategies could also have success in rare disease management. Kalydeco® is the emblematic example demonstrating the indispensable role of an active patient participation in fully achieving the P4 medicine goals. It is actually the patient involvement that will furnish the fundamental data necessary in defining molecular profiles specific to the health status of any patient. These molecular profiles will contribute in planning preventive, and/or therapeutic interventions aimed at maintaining, and/or restoring the health conditions. Hence, for a correct and effective implementation of P4 medicine, researchers and healthcare professionals should always consider the psychological experiences and characteristics of their patients and families; making them all participants in formulating an appropriate therapeutic path. In achieving this, it will not only be necessary to consider and use concepts of vulnerability and resilience, particularly in the rare disease field, where patient fragility is high, and caregivers are often faced with unique and difficult issues, never confronted before.