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Related Experiment Videos

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

C R Scriver1

  • 1Department of Biology, McGill University, Montreal Children's Hospital, Montreal, Quebec, Canada. charles.scriver@mcgill.ca

Acta Paediatrica (Oslo, Norway : 1992)
|May 6, 2004
PubMed
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What we know that could influence future treatment of phenylketonuria.

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CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene.

Human mutation·2006

The Human Genome Project is complete, but understanding genomic function requires a "human phenome project." Studying phenylalanine hydroxylase (PAH) genotypes and PKU/Hyperphenylalaninemia phenotypes reveals the complexity of genomic medicine.

Area of Science:

  • Genomics and Human Health
  • Biochemistry and Molecular Biology

Background:

  • The Human Genome Project's completion marks a starting point for understanding genomic complexity.
  • A
  • human phenome project
  • is needed to bridge the gap between genotype and phenotype.
  • Genomic information requires biochemical and biological context to be clinically relevant.

Purpose of the Study:

  • To highlight the complexity of genotype-phenotype relationships using phenylalanine hydroxylase (PAH) as an example.
  • To emphasize the necessity of integrating biochemistry and biology for the advancement of genomic medicine.
  • To advocate for the role of clinician scientists in translating genomic discoveries to clinical practice.

Main Methods:

Related Experiment Videos

  • Analysis of genotype-phenotype correlations in phenylketonuria (PKU) and hyperphenylalaninemia.
  • Conceptual framework for integrating genomic, biochemical, and clinical data.
  • Discussion of the role of clinician scientists as intermediaries.

    • Main Results:

    • Mutant PAH genotypes exhibit complex relationships with PKU/Hyperphenylalaninemia phenotypes.
    • Genomics alone does not fully explain phenotypes; biochemical pathways are crucial.
    • Clinician scientists are essential for implementing genomic medicine.

    Conclusions:

    • Translating genomic data into clinical applications requires a deep understanding of biochemistry and biology.
    • The development of a "human phenome project" is crucial for advancing genomic medicine.
    • Rebuilding the community of clinician scientists is vital for bridging the lab-to-bedside gap.