On this day in history: human genome completion

By Rebecca Baker 7 November 2013
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Ten years ago today, scientists completed the first draft of the human genome.

Ten years ago today an announcement was made representing the starting point for a new era of genetic medicine: the mapping of the human genome.

In June 2000, British Prime Minister Tony Blair and US President Bill Clinton announced the first draft of the human genome had been completed. Due to the rapid advance in technology, the whole project was finished three years later.
In an attempt to unravel the secrets of our genes, the U.S Human Genome Organisation, (HUGO), founded by leading scientists in the field, coordinated a massive international research project aiming to better understand how we’re put together.

The Human Genome Project began in 1989 and aimed to completely map and sequence the position of every human gene and to read and decipher every message encoded in the twisted double helix of our DNA. 

American biologist and entrepeneur Craig Ventor – a scientist who contributed to mapping the entire human genome – had his own personal genome analysed in 2007. It showed an increased risk of Alzheimer’s disease and cardiovascular disease. This opened up debate on the privacy of medical information.

Associate professor Dr Gavin Huttley from the John Curtin School of Medical Research at ANU says the study of human genetics is central to understanding humans, but it’s also much more than that. 

“The great beauty of the Human Genome Project is that its benefits extend well beyond understanding of just humans.” Gavin says. “The project has had an enormous impact on all of the biological sciences, in part through its stimulating the development of technologies for the rapid acquisition and analysis of DNA sequences.”

Knowing the genetic blue print for human beings has allowed scientists find new genes and delve into the mysteries of genetic human disease like cystic fibrosis and Huntington’s disease. “The study of human genetics is central to understanding the causes of human diseases,” Gavin says.
“For instance, cancers occur precisely because of genetic defects. Defects in specific genes such as BRCA1 are known to significantly elevate the risk of breast cancer in women belonging to a family where there have already been multiple occurrences of breast cancer. More generally, genetics is one of the possible explanations for the tendency for members of a family to share a predisposition to disease.”

Aside from diseases, knowledge of genes and how they can be influenced by environment is another intriguing line of study.
“I suspect most people would know that some individuals can get away with an unhealthy lifestyle while others cannot,” Gavis says. “In addition to human genetics playing a direct role in this, it is now emerging that for some diseases, such as obesity, our interaction with microbes play a significant role too. In other words, how genes and environment interact can be amazingly complex.”

Since the human genome was completed, scientists branched out to study the genetic makeup of a multitude of non-human organisms, including the Australian species such as the platypus and zebra finch.

Biologists originally believed our DNA would contain hundreds of thousands of genes, but the human genome project discovered there were only between 22,000-25,000 genes.