Current Paediatrics
Volume 12, Issue 3 , Pages 238-243, June 2002

What's new in genetics?

Royal Free and University College Medical School, UCL, The Rayne Institute, 5 University Street, London, WC1E 6JJ, UK

Abstract 

Genetics continues to advance at an accelerating pace. The completion of the human genome draft sequence is a milestone in human biology, and represents the foundation stone for a revolution in our understanding of the biology of man. Annotation of the genome, that is elucidating the function of all the genes, represents a major challenge for the future. Over 1000 Mendelian disease genes have now been identified and recent discoveries concerning the role of ion channels in human epilepsies are reviewed. The focus is now shifting towards the analysis of ‘complex’ traits using new information on human genetic variation manifested as single-nucleotide polymorphisms. Identification of a susceptibility locus for Crohn's disease,N0D2 , represents a first step in this direction.

Keywords: genome, epilepsy, ion channels, Crohn's disease

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  • f1 Correspondence to: RMG. Tel.: +44 (0)20 7679 6101; Fax: +44 (0)20 7679 6103; E-mail: mark.gardiner@ucl.ac.uk

PII: S0957-5839(01)90291-X

doi:10.1054/cupe.2001.0291

Current Paediatrics
Volume 12, Issue 3 , Pages 238-243, June 2002

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