Zusammenfassung
Die zell- und molekularbiologische Forschung hat in den letzten Jahren nicht nur zu einem besseren Verständnis der Pathogenese zahlreicher Erkrankungen des Menschen geführt, sondern auch zunehmend Eingang in Diagnostik, Therapie und Prävention gefunden. So ist es heute möglich, einerseits mit molekulargenetischen oder biochemischen Methoden Mutationen oder „Single-Nucleotide-Polymorphismen“ (SNPs) nachzuweisen und andererseits durch sog. „Arrays“ mehrere zehntausend Gene (DNA), Transkripte (RNA) oder Proteine von z. B. Tumorgeweben simultan zu analysieren und damit ein individuelles krankheitsspezifisches Gen- oder Expressionsprofil (Signatur) zu definieren. Auf der Basis solcher Daten wird es zunehmend möglich, für den Einzelfall Aussagen über bestimmte Krankheitsanlagen zu machen bzw. prädiktiv die Prognose der Erkrankung oder die Wirksamkeit therapeutischer Strategien zu beurteilen (individualisierte Medizin). Im Folgenden wird der aktuelle Stand der individualisierten Medizin und deren klinische Relevanz beispielhaft für einige gastroenterologische und hepatologische Erkrankungen dargestellt.
Abstract
Research in molecular and cell biology has not only greatly advanced our understanding of the pathogenesis of numerous human diseases but also contributed to the diagnosis, therapy and prevention. Based on modern molecular and biochemical methods it is possible to identify point mutations and single nucleotide polymorphisms (SNPs) and using high throughput array technologies it is possible to analyze thousands of genes simultaneously, resulting in an individual gene or gene expression profile (signature). These data increasingly allow the individual risk for a given disease to be defined and to predict the individual prognosis of a disease as well as the efficacy of therapeutic strategies (personalized medicine). In the following article recent advances in personalized medicine and its clinical relevance for some gastroenterological and hepatic diseases will be presented.
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Bengsch, B., Thimme, R. & Blum, H. Individualisierte Medizin 2011. Gastroenterologe 6, 106–111 (2011). https://doi.org/10.1007/s11377-010-0489-6
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DOI: https://doi.org/10.1007/s11377-010-0489-6