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November 2001

The Human Genome Project and Eye Disease: Clinical Implications

Arch Ophthalmol. 2001;119(11):1710-1711. doi:10.1001/archopht.119.11.1710

THE HUMAN Genome Project began as a joint initiative of the Department of Energy (Washington, DC) and the National Institutes of Health (Bethesda, Md) that was formed with the major goal of sequencing the DNA that defines the human genome. Since its conception, many other countries and public and private organizations (such as Celera) have participated in the massive task of sequencing approximately 3 billion base pairs of human DNA. Within this major objective were specific goals that included the identification of human DNA sequence variation and polymorphism as well as the identification of the chromosomal locations and sequence of all human genes.1 It is well recognized that the Human Genome Project will lead to significant advances producing new definitions of human disease and that it will change the current practice of clinical medicine. During the past 5 years, most of the individual goals of the project have been realized.2,3 DNA sequence polymorphisms including microsatellite repeat markers and single nucleotide polymorphisms (SNPs) have been identified with high density and even distribution throughout all human chromosomes. Gene sequences in the form of complementary DNA (cDNA) (a DNA copy of messenger RNA) and expressed sequence tags (fragments of cDNA) have been located within specific chromosomal regions. The ultimate goal of the project, the complete sequencing of human DNA, has been completed as a first draft both by the public project and by the privately funded effort of Celera. The public version of the current sequence is accessible at several Web sites including the National Center for Biotechnology Information (http://www.ncbi.nlm.nih.gov/) and the genome browser at the University of California at Santa Cruz (http://genome.ucsc.edu).