Human Genome Project

The heritability of diseases and traits has fascinated humanity since ancient times. Hippocrates recognized the hereditary transmission of many diseases, and Aristotle noted that children not only have some of the same diseases as their parents but also often share similar characteristics. Most recently, the Human Genome Project marked the beginning of a new era in which mutations implicated in human disease started being discovered at an increasing pace. Breast and ovarian cancer, colon cancer, systemic lupus erythemato-sus, macular degeneration, prostate cancer, diabetes, and psoriasis are just a few conditions for which the genetic basis has been elucidated in the years since the Human Genome Project was initiated. These advances improved our understanding of the genetic basis of several medical conditions and revolutionized the field of genetic testing. This revolution promises to bring additional advances in coming decades, as well as new controversies, and is destined to continue to produce prominent news items.

It is widely accepted that modern genetics started in the mid-19th century with the Augustinian monk and botanist Gregor Mendel. While breeding different varieties of peas to generate hybrids, Mendel observed that certain traits disappeared during the first generation and reappeared later in mathematically predictable patterns. He called these traits recessive, as opposed to the ones present in every generation, which became known as dominant. Thomas Hunt Morgan later proposed that a collection of small elements, called genes, localized in discrete places on the chromosomes found in the nuclei of living cells, constitute the basis of heredity. The 1953 discovery of the DNA double helix helped elucidate the molecular basis of inheritance, and less than half a century later, in October 1990, a massive international and multi-disciplinary effort, known as the Human Genome Project, was initiated to gain insight into human genetic material and to better understand the genetic basis of medical conditions.

The project, considered to be one of the most monumental accomplishments in biology during the 20th century, cost approximately 2.7 billion U.S. dollars and marked the beginning of a new era, that of the omics sciences, which now include genomics, proteomics, transcriptomics, metabo-nomics, and toxicogenomics and is constantly expanding. Completion of an initial draft of the human genome was announced on June 26, 2000, and the project was officially completed on April 14, 2003, less than 13 years after it started. The National Human Genome Research Institute (NHGRI) and the Department of Energy (DOE) coordinated this massive collaborative effort, and the actual sequencing was performed at several [Page 375]research centers in the United States, the United Kingdom, Germany, France, China, and Japan.