Human Genome Project

The Human Genome Project began in earnest in 1990 as an international, publicly funded effort to determine the sequence of the three billion base pairs of human DNA. The major goals of the project are to identify and functionally characterize the estimated 30,000 to 40,000 genes in human genome and to address the ethical, legal, and social issues that will arise from the use of the project's results in medical practice. The initial sequencing phase of the project was complete in 2000. Biomedical researchers are building upon the knowledge, resources, and technologies emanating from the Human Genome Project by identifying specific genotypes that contribute to human health and disease phenotypes. The ultimate goal is to use this information to develop new ways to treat, cure, or even prevent diseases that afflict humankind. The identification of genes and genotypes that cause birth defects and other diseases is being made possible by the project. The introduction of this information into medical practice, in particular through genetic counseling, will have a major impact on improving child health and development by providing more accurate diagnostic tests for disease carriers and prenatal testing for birth defects.