Human Genome Project, international scientific collaboration, the goal of which is to gain a basic understanding of the entire genetic content, or genome, of a human being (see Genetics; Heredity). This genetic information is found in each cell of the body, encoded in the chemical deoxyribonucleic acid (DNA). The project is intended to identify all the genes in the nucleus of a human cell; to establish, by a process known as mapping, where those genes are located on the chromosomes in the nucleus; and to determine, by a process known as sequencing, the order of the DNA’s chemical subunits encoding the genetic information.
The ultimate goal of genomic mapping and sequencing is to associate specific human traits and inherited diseases with particular genes at precise locations on the chromosomes. The successful completion of the genome project promises to revolutionize both therapeutic and preventive medicine by providing insights into the basic biochemical processes that underlie many human diseases.
The idea of undertaking a coordinated study of the human genome arose from a series of scientific conferences held between 1985 and 1987. The Human Genome Project began in earnest in the United States in 1990 with the expansion of funding from the National Institutes of Health (NIH) and the Department of Energy (DOE). Many other nations have official human genome research programs as part of this informal collaboration.
The human genome is composed of about 50,000 to 100,000 genes located on the 23 pairs of chromosomes in a human cell and each including many chemical compounds called bases. DNA codes genetic information in base pairs. The DNA being analyzed in the Human Genome Project typically comes from small samples of blood or tissue obtained from many different people. Although the genes in each person’s genome are made up of unique DNA sequences, the average variation in the genomes of two different people is estimated to be much less than 1 percent.
When completed, the Human Genome Project will have generated a catalog describing 50,000 to 100,000 human genes at some level of detail; high-resolution maps of the chromosomes; and billions of base pairs of DNA sequence information. As of early 1996, more than 4000 genes had been mapped at least to a specific chromosome; 1600 genes of known function had been cloned (see Clone); 1000 genetic diseases had been associated with a defect in a mapped gene; and more than 150 million base pairs of human DNA had been sequenced. The ultimate goal of the Human Genome Project is to sequence all 3 billion base pairs by the year 2005.
As the genes associated with some hereditary diseases have been identified in recent years, better genetic screening tests, new drugs, and genetic therapies to fight these illnesses have become possible. However, increased knowledge of the human genome also has many controversial ethical, legal, and social implications.