The results of the Human Genome Project included a better understanding of the roles genes play in the human body. Scientists learned that there were fewer genes than originally believed that make up the human genome. They were able to learn that all genes do not have one specific role, as was previously believed, but can actually make up to three proteins. Understanding the roles and numbers of genes provides important information for exploring the causes of and cures for specific diseases.
This was no easy undertaking; the project involved sequencing all of the human genome's 3 billion letters, also called base pairs. Regardless, the researchers working on the project completed it two years early and under budget [source: NIH Fact Sheet]. As they worked, they began sharing the information online to enable medical researchers to use information right away.
Overall, scientists confirmed the existence of 19,599 protein-coding genes in the human genome, less than the 30,000-plus they expected to find [source: NIH release]. They also identified more than 2,000 DNA segments that likely are protein-coding genes. Sequencing also has helped researchers; only about 81,000 base pairs were sequenced before, but more than 38 million base pairs were sequenced by the time the team completed its work. That helps researchers find genes and neighboring sequences that control their activities, which is an important part of the disease process. In 2005, they published a catalog of common genetic variations using data from 11 global populations. This project, called HapMap, has helped speed up the search for causes of common diseases.
Part of the HGP involved mapping the genomes of various other species. This mapping process allowed scientists to learn more about the human connection with various species and to better understand DNA and human evolution. For example, lab rats have assisted researchers with medical advances in diseases ranging from high blood pressure to cancer. Knowing how our genes are similar to and different from rats helps the researchers make better comparisons in clinical experiments about diseases and treatments between their subjects and the people who will benefit.
Throughout the HGP, the National Health Institute also has proactively dealt with various ethical, legal and social implications of the project's findings. We're not through learning from the HGP by any means; more ethical issues need to be considered as research extends beyond medical genetics. One thing is certain: The future holds great promise for new discoveries and targeted disease therapies.
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