Human Genome Project

On this date in 2001, a working draft of the human genome was published in the journal Nature. This draft covered about 83 percent of the genome. The entire Human Genome Project was completed in April 2003 — two years ahead of schedule.

In 1953, James Watson and Francis Crick had published a paper that first described the structure of DNA, and they hypothesized that this structure "suggests a possible copying mechanism for the genetic material." DNA is the blueprint that develops and directs the function of an organism. Its molecules take the form of a double helix: two twisting strands that are linked together like the sides of a ladder. They're made up of four different chemical units, called nucleotide bases, which match up, forming the base pairs that make up the rungs of the ladder. The goal of the Human Genome Project was to sequence and map all the genes in the blueprint that makes up a human being, using the resources and brainpower of scientists all over the world; it's the largest single biological investigation in modern science.

Funding for the project originally came from the United States Department of Energy's Office of Health and Environmental Research; they had been supporting research into understanding the human genome for several years. Once the Human Genome Project was ready to get underway in 1990, the DOE coordinated its efforts with the National Institutes of Health. James Watson — who had first described DNA's structure in 1953 — was heading up the NIH's National Center for Genome Research at that time. There was a similar project in the private sector, run by a company called Celera Genomics. Celera planned to patent as many as 300 genes, but President Clinton declared in 2000 that the genome sequences could not be patented, and said that the results should be made available to the public. As a result, the human gene sequence is freely available on the Internet, but Clinton's announcement sent Celera's stock plummeting and cost the biotech sector about $50 billion in market capitalization.

Scientists expected to find that humans had more than 100,000 genes; it turns out we have only about 20,000 to 30,000 — about the same as mice. The genes themselves are mostly similar to mice and other mammals too, with only a few exceptions. The Human Genome Project is the highest profile DNA sequencing project, but there are others that map the genomes of other organisms, like fruit flies, yeast, plants, and microbes.

The next phase of the research, the International HapMap Project, aims to establish a list of common genetic variants, since an individual's genome — with the exception of identical twins and clones — is unique to them. Researchers hope to identify the variants that cause higher risk of diseases like cancer and diabetes, and they also hope to develop more accurate and effective treatments tailored to these genetic variants. Biotech companies have developed tests to show whether a person has a genetic predisposition to develop things like cystic fibrosis, liver disease, and breast cancer. But there are also ethical concerns, like whether the information contained in a genome is likely to be used to discriminate against an individual when it comes to insurance or employment. The Human Genome Project formed and funded the Ethical, Legal, and Social Implications program to consider such questions. GK