Literature DB >> 15124827

Translating knowledge into practice in the "post-genome" era.

C R Scriver1.   

Abstract

The Human Genome Project is "completed", but it is only a beginning in the understanding of genomic structure and function. A "human phenome project" is waiting in the wings. The complexity involving a phenotype can be glimpsed, for example, if one enquires into the relationships between mutant phenylalanine hydroxylase (PAH) genotypes and the clinical disorders called PKU/Hyperphenylalaninemia-so called lessons from PKU genotypes and phenotypes. Since genomes speak biochemistry, not phenotype (said RHA Plasterk), for genomics to penetrate medicine, biochemistry and biology must be allies. The ideal translators and ambassadors of the knowledge that must cross the gap between laboratory and bedside are the clinician scientists; restoration of that attenuated community of colleagues is a necessary step in the implementation of genomic medicine.

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Year:  2004        PMID: 15124827     DOI: 10.1080/08035250310024682

Source DB:  PubMed          Journal:  Acta Paediatr        ISSN: 0803-5253            Impact factor:   2.299


  3 in total

1.  Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU.

Authors:  J J Moyle; A M Fox; M Arthur; M Bynevelt; J R Burnett
Journal:  Neuropsychol Rev       Date:  2007-04-05       Impact factor: 7.444

2.  The hepatic transcriptome in human liver disease.

Authors:  Nicholas A Shackel; Devanshi Seth; Paul S Haber; Mark D Gorrell; Geoffrey W McCaughan
Journal:  Comp Hepatol       Date:  2006-11-07

3.  The cycle of genome-directed medicine.

Authors:  Janet A Buchanan; Andrew R Carson; David Chitayat; David Malkin; M Stephen Meyn; Peter N Ray; Cheryl Shuman; Rosanna Weksberg; Stephen W Scherer
Journal:  Genome Med       Date:  2009-02-02       Impact factor: 11.117

  3 in total

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