Molekulare Medizin: Pathobiochemie als Schlüssel zur personalisierten Therapie vererbter Krankheiten

Genetic defects are often still regarded as a life-long fate, which one has to cope with. It is true that in many cases an inherited disposition may lead to a severe disease; however, it is also true that the number of genetic defects with a treatment option is continuously increasing and in some of them the onset of disease symptoms can even be totally prevented. Knowledge of the precise molecular pathomechanism is often the basis for a treatment concept. Genome-wide sequencing has tremendously increased the possibility to identify a genetic defect and its broad application has meanwhile made a decisive contribution in routine diagnostics. After identifying a genetic alteration, it is still necessary to investigate the pathobiochemical consequences on the cellular and systemic level. This can be a time-consuming process since not all functional consequences can be immediately recognized. In the case of metabolic defects the treatment strategy can either be a supplementation of missing products or a removal of toxic substrates. The residual function of affected pathways can also often be improved. Recently, the direct correction of the affected genetic defects has become a treatment option for a selected number of diseases. As the first symptoms of disease usually occur early in life, pediatrics has a pioneering role in developing treatment strategies.