You may have heard of the word 'gene,' but may not be as familiar with the word 'genome.' The word genome has been coined by combining gene and chromosome. Genome refers to all genetic information encoded in 23 sets of human chromosomes. The encoded genetic information is like an encyclopedia specifically about your body. It can tell you all about your body that were inherited by your parents.

Scientists believed that learning more about the genome can open the door to a new world where we could overcome hurdles in treating diseases.

This idea of providing genetic approaches in treating diseases was initiated as the Human Genoplan Project (HCP) in 1990. Thanks to the scientists who were involved in organizing the plans in the early phase of the project, HGP was declared complete in 2003, which is 2 years earlier than the expected end date.

So what are the discoveries that the scientists have revealed from the HGP and how much information are actually encoded into the genome?

First, scientists have found that human gene is consisted of 3 billion base pairs. If you have trouble estimating the volume of the information, here's an analogy. Let's say genetic information can be written on a piece of paper and you are able to fit in 1,000 characters in an A4 sized paper. If you were to include all of your genetic information, then the paper stack would reach up to 300 m in height. What is more extraordinary is that this whopping amount of information are packaged into the nucleus of a human cell.

Also, the HGP discovered that human has 20,000 ~ 25,000 genes. Of the 3 billion base pairs, human genes make up only 2%. At the beginning of the project, scientists estimated that 2,000,000 ~ 4,000,000 genes to be present in the human genome. As the project progressed, however, researchers learned that human genome does not contain as many genes as they initially thought. In reality, 80% of the total base pairs in the human genome work as regulators - which can also be called as the on-off switches - of the other 20%. Scientists are currently prying deeper into the functions of the regulators and the mechanisms behind the on-off switches.

Additionally, researchers identified people are genetically 0.1% ~ 0.4% different. This means that all of humanity are 99.9% identical, with only 3,000,000 base pair difference. These genetic differences - also termed as Single Nucleotide Polymorphisms (SNPs) - serve as a foundation for diversity. Differences in skin colors and eye colors are two of the most common physical traits that resulted from genetic diversity.

Lastly, HGP provided genetic insight into hereditary diseases. One of the main purposes of the project was to gain deeper understanding in hereditary diseases, prevent illnesses, and develop customized medical treatments by analyzing the human gene. The completion of the HGP provided more insight into the SNPs - or genetic variants - that cause specific diseases and allowed the scientists to predict genetic susceptibility toward certain hereditary illnesses. Studies that link human genes and disease development are ongoing since 2006.

The desire to overcome obstacles in developing disease treatments and the natural desire to explore the areas unknown have been the major driving force of the Human Genome Project.


Genoplan Inc. provides genetic analysis based on SNP information and the genetic testing is performed in Genoplan Japan.