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After the genome--the phenome?
1Department of Biology, McGill University, McGill University Health Center, A-721, Montreal Children's Hospital, 2300 Tupper Street, Montreal, Quebec, Canada H3H 1P3. charles.scriver@mcgill.ca
Journal of Inherited Metabolic Disease
|June 11, 2004
Summary
The Human Genome Project revealed complex genotype-phenotype links. A Human Phenome Project is needed to understand individual biological complexity and improve genetic disease treatments.
Area of Science:
- Genomics
- Systems Biology
- Biochemistry
Background:
- The Human Genome Project highlighted the intricate relationship between genotype and phenotype.
- Phenotypic individuality is influenced by various 'omes' (transcriptome, metabolome, proteome).
Purpose of the Study:
- To advocate for a Human Phenome Project.
- To emphasize the need for integrative biology over reductive approaches.
- To highlight the role of clinician-scientists in understanding individuality and traits.
Main Methods:
- Elucidation of the phenome's layers, nodes, links, and networks.
- Integrative biological approaches.
- Analysis of genetic contributions to Mendelian and complex traits.
Main Results:
- The phenome requires comprehensive study to understand biological individuality.
- Integrative biology is the future direction for biological sciences.
- Understanding the phenome will reveal individual contributions to various traits.
Conclusions:
- A Human Phenome Project is essential for a deeper understanding of human biology.
- Clinician-scientists are crucial for phenome research and its medical applications.
- Improved treatments for genetic diseases will emerge as a byproduct of phenome research.