The Human Genome Project

What is the Human Genome Project and how does it relate to the identification and treatment of birth defects?

The Human Genome Project, which began in 1990, is a government funded project to map all of the human genes (30,000 total) on the 46 chromosomes. After the atomic bomb was developed and used, the US Congress charged the Department of Energy to study and analyze the effects of by-products of radiation such as those caused by the atomic bomb. It was determined that the best way to do this was to analyze the entire human genome. In conjunction with the National Institutes of Health (NIH), the following goals were set:

  • To identify all genes in human DNA.
  • To determine the sequences of the three billion chemical base pairs that make up human DNA and store this information in databases.
  • To develop tools for data analysis.
  • To address the ethical, legal, and social issues (ELSI) that may arise from the project.

Although knowing the location of all of the human genes on the chromosomes is a monumental achievement, there is much more work to do before this information can be used to diagnose, treat, or predict the occurrence of disease. Therefore, the completion of this project will not automatically mean that there will be testing for all disease-causing genes, and that we will suddenly know all causes of birth defects. However, the hope is that the Human Genome Project will eventually lead to the ability to test for more causes of birth defects, and will allow scientists and physicians to better understand the causes of birth defects. In time, the role that multiple genes play in causing birth defects should be better understood, with the possibility of developing treatments or prevention strategies.