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Genetik in der Pädiatrie als Interaktion zwischen Klinik und Labor

Genetics in pediatrics as an interaction between clinic and laboratory

  • Leitthema
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Monatsschrift Kinderheilkunde Zeitschrift für Kinder- und Jugendmedizin Aims and scope Submit manuscript

Zusammenfassung

Auch in der Pädiatrie wird die Genetik für die Definition von Krankheiten zunehmend wichtiger. Die rasch akkumulierenden molekularbiologischen Erkenntnisse erfordern laufend eine Anpassung der Zuordnung von mit bestimmten genetischen Merkmalen assoziierten Krankheitsbildern. Ein grundlegendes Wissen über genetische Konzepte und die Funktion des Genoms ist eine wichtige Voraussetzung des Verständnisses der normalen und pathologischen Entwicklung des menschlichen Organismus sowie dessen Krankheiten. Molekulardiagnostische Untersuchungen sind nicht nur integraler Bestandteil der Diagnose und Differenzialdiagnose, sondern werden zunehmend zur Definition von genetischen Varianten eingesetzt, welche die Entwicklung von Krankheiten voraussagen sollen. Nicht zuletzt ermöglichen die Erkenntnisse der genetischen Grundlagenforschung auch die Entwicklung völlig neuer Therapiekonzepte, welche die Gesundheit und Lebensqualität der betroffenen Patienten wesentlich verbessern. Dem erwünschten medizinischen Nutzen stehen jedoch zunehmend die vielfältigen ethischen, rechtlichen und sozialen Probleme gegenüber, welche sich aus den gewonnenen Informationen ergeben.

Abstract

As in many other areas of medicine, pediatric diseases are increasingly defined and classified according to their genetic basis. Moreover, the steadily growing body of information requires continuous adjustment to the classification of diseases that are due to particular gene defects. A basic knowledge of genetic concepts and genome function is thus an essential prerequisite for the understanding of the normal and pathological development of the human organism as well as its diseases. Molecular tests are not only an integral part of diagnosis and differential diagnosis, but they are also increasingly used to define genetic variants that are supposed to predict the development of diseases. Finally, the insights obtained from genetic research also enable the development of completely novel therapeutic concepts to improve patient health and quality of life. However, these desirable medical benefits and advantages are pitted against the manifold ethical, legal and social implications arising from the information obtained, intentionally or unintentionally, about the genetic peculiarities of a particular individual.

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Authors and Affiliations

  1. St. Anna Kinderspital, Kinderspitalgasse 6, A-1090, Wien, Österreich

    O.A. Haas

  2. medgen.at GmbH, Wien, Österreich

    O.A. Haas

  3. Universitätsklinik für Kinder- und Jugendheilkunde, Wien, Österreich

    O. Bodamer

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  1. O.A. Haas
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  2. O. Bodamer
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Correspondence to O.A. Haas.

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Haas, O., Bodamer , O. Genetik in der Pädiatrie als Interaktion zwischen Klinik und Labor. Monatsschr Kinderheilkd 156, 323–329 (2008). https://doi.org/10.1007/s00112-008-1681-3

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  • DOI: https://doi.org/10.1007/s00112-008-1681-3

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