1. The Relevance of Molecular Biology to Clinical Practice

  1. Charles G. D. Brook MA, MD, FRCP, FRCPCH1 and
  2. Mehul T. Dattani MD, FRCP, FRCPCH, DCH2,3

Published Online: 23 FEB 2012

DOI: 10.1002/9781119968153.ch1

Handbook of Clinical Pediatric Endocrinology, Second Edition

Handbook of Clinical Pediatric Endocrinology, Second Edition

How to Cite

Brook, C. G. D. and Dattani, M. T. (2012) The Relevance of Molecular Biology to Clinical Practice, in Handbook of Clinical Pediatric Endocrinology, Second Edition, Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781119968153.ch1

Author Information

  1. 1

    University College London, London, UK

  2. 2

    Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, UK

  3. 3

    Great Ormond Street Hospital for Children, London and University College London Hospitals, UK

Publication History

  1. Published Online: 23 FEB 2012
  2. Published Print: 13 APR 2012

ISBN Information

Print ISBN: 9780470657881

Online ISBN: 9781119968153

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Keywords:

  • application of molecular biology to diagnosis and treatment of endocrine disease;
  • genomics;
  • informatics;
  • metabolomics;
  • pharmacogenomics;
  • proteomics

Summary

An understanding of molecular biology is now essential to clinical practice, especially in pediatric endocrinology. This chapter unravels genomics, proteomics, metabolomics, and pharmacogenomics. It explains the integration of data generated by transcriptomic, proteomic, epigenomic and metabolomic analyses through informatics and the application of molecular biology to diagnosis and treatment.

The inheritance of genetic disorders in humans may be mendelian or more complex. The human genome contains around 30,000–40,000 genes; its complexity is increased by the use of alternative promoters, epigenetic phenomena and alternative splicing. Further complexity is imparted by disorders of imprinting, mitochondrial disorders, mosaicism, digenic/oligogenic inheritance, sex-influenced phenotypes and variability of penetrance and expressivity. The chapter simplifies what sounds extremely complicated.