Translating knowledge into practice in the post-genome era

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...

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Bibliographic Details
Published in:Acta pædiatrica (Oslo) 2004-03, Vol.93 (3), p.294-300
Main Author: SCRIVER, C. R
Format: Article
Language:English
Subjects:
Air. Soil. Water. Waste. Feeding
Aminoacid disorders
Biological and medical sciences
Environment. Living conditions
Errors of metabolism
General aspects
Genome
Genomics
Genotype
Homeostasis - physiology
Human Genome Project
Humans
Medical sciences
Metabolic diseases
Phenotype
Phenylketonurias - genetics
Proteome
Proteomics
Public health. Hygiene
Public health. Hygiene-occupational medicine
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Description
Summary: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.
ISSN:0803-5253
1651-2227
DOI:10.1080/08035250310024682