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Translating knowledge into practice in the “post‐genome” era *
Author(s) -
Scriver CR
Publication year - 2004
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2004.tb02949.x
Subject(s) - phenome , hyperphenylalaninemia , genomics , phenotype , genome , genomic medicine , medicine , human genome , function (biology) , hypoallergenic , genetics , computational biology , biology , gene , phenylalanine , immunology , allergy , amino acid , allergen
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.