April 3, 2002

The Future of Biomedical ResearchFrom the Inventory of Genes to Understanding Physiology and the Molecular Basis of Disease

Author Affiliations

Author Affiliation: Department of Molecular, Cellular, and Developmental Biology, Yale University, New Haven, Conn.

JAMA. 2002;287(13):1725-1727. doi:10.1001/jama.287.13.1725

The euphoria surrounding completion of the first draft of the sequence of the human genome signaled the beginning of the end of a historic phase of biomedical research that spanned the 20th century—the creation of an inventory of the molecules required for human life. Throughout the past 100 years, much knowledge was also learned about biological function but from a historical perspective the big story was the molecular inventory. Like the 19th-century biologists, who enumerated the variety of biological species and identified their phylogenetic relationships, 20th-century biologists used genetics, biochemistry, and large-scale genome sequencing to identify the catalog of human genes. Much work remains with this inventory because picking all human genes from a sequence of 3 billion DNA base pairs is incomplete and far from trivial. The initial count of 35 000 human genes may be short of the actual number. In addition, many genes originate more than one protein product owing to alternative splicing of the primary RNA transcript. Thus, the number of different human proteins will likely exceed 100 000.

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