A quick win in personalised medicine could be in the area of rare inherited disorders, of which most are life-threatening or seriously debilitating. Currently, 6000-8000 rare inherited disorders are known and the genetic basis of around halve has been resolved. About a thousand are currently treatable and taken together all rare inherited disorders place a major burden on Europe’s health care systems. Studying known monogenic disorders will improve our understanding of genetic and environmental modifiers of disease severity and provide an ideal for the discovery, evaluation and validation of novel bio-markers and -signatures for the prediction of severity that.
