The human genome project was initiated in 1990 by the US Department of Energy (DOE) and National Institutes of Health (NIH). It also involved hundreds of scientists from different organizations worldwide. The primary goal of this project was to determine the entire sequence of the DNA found in human cells (the human genome). In addition to DNA sequencing, the project goals included identifying all of the genes (i.e. coding DNA) in the human genome, developing and improving techniques for gene sequencing and genomic data analysis and sharing the data and technologies with the private sector.
A portion of the money raised for the human genome project was used to address ethical, legal and social issues (ELSI) arising from having determined the genome sequence. Some of the ethical issues that may arise from a project such as this are ownership of cell lines and genetic material and the idea of designer babies. This aspect of the project made it unique in that it was the first time a project included evaluation of ELSI arising from its own data.
The human genome project was originally scheduled to last 15 years but technological advances in DNA sequencing resulted in its early completion in 2003. Data collected on the genome sequence and newly developed techniques for screening DNA, resulted in an unprecedented boom in medical research and an abundance of discoveries linking genetic variants to an assortment of diseases such as various cancers, Altzheimer's and Parkinson's diseases. The knowledge that was collected will someday lead to cures and treatments and, possibly means of preventing, these diseases.
Data from the human genome project cleared up some incorrect assumptions that were previously accepted knowledge. For example, it was previously thought that the total number of genes in the human genome was 80,000 – 140,000, compared to the 4,400 found in the extenisvely studied bacterium Escherichia coli. However, we now know that there are only about 30,000 genes, 50% of which currently have unknown functions. Less than 2% of the genome encodes proteins and 99.9% of the nucleotide sequence is the same in all people. The last 0.1% can be attributed to polymorphisms and individual differences in race, coloring and other physical factors, as well as contributing to genetic diseases. These polymorphisms became the focus of the company deCODE Genetics which flourished for several years immediately after the human genome was sequenced. Much of the data collected on non-coding regions of DNA have helped our understanding of chromosome structure and organization.