Genetik in der pädiatrie als interaktion zwischen klinik und labor

Translated title of the contribution: Genetics in pediatrics as an interaction between clinic and laboratory

O. A. Haas, O. Bodamer

Research output: Contribution to journalReview article

2 Scopus citations

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.

Original languageGerman
Pages (from-to)323-329
Number of pages7
JournalMonatsschrift fur Kinderheilkunde
Volume156
Issue number4
DOIs
StatePublished - Apr 1 2008

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Keywords

  • Disease definition
  • Gene therapy
  • Genetic diagnostics
  • Legal regulations
  • Pediatrics

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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