In October 1990, one of the greatest projects of all time was initiated. This project was called the Human Genome Project (HGP), and its aims were to discover all the human genes present within the deoxyribonucleic acid (DNA) and to sequence, or know the order of the entire human DNA. This project was an international venture that involved several labs in different countries. In April 2013, the project, which lasted 13 years, was completed with a hefty price tag of approximately 3 billion dollars. 

This project has benefited humankind immensely, especially in the field of molecular medicine.  By associating a group of genes to a disease, we are able to detect genetic predispositions to that disease early. Furthermore, more sensitive and specific diagnostic tools to detect diseases can be developed. The techniques used in this project are currently being used in the discovery of microbial genomes, which might provide us with clues to create new energy sources. It is not only the biological field that has benefitted from this project. Due to a large amount of data generated and its complexity, you may use https://www.onramp.bio/, which will streamline and simplify the analysis process for you. However, more sophisticated computational and mathematical approaches were and are still being developed to deal with arising issues. 

Genomics

Genomics, as defined by the World Health Organization (WHO), is “the study of genes and their functions, and related techniques”. Not to be confused with genetics, which is the study genes and their role in inheritance. Genetics mainly involves the study of individual genes and how they are passed from one generation to the next; it also looks at what disorders occur during the absence or presence of a certain gene. However, genomics rather looks at the genes in their entirety, how they interact with one another and their environment. This allows scientists to study more complex diseases such as diabetes, heart disease, and cancer that do not only involve a single gene, but rather an interplay between genetic and environmental factors.

In order to talk about some of the interesting facts that have been discovered in the field of genomics, a little background on what the genome is and what the basic components that make up the genome are will be provided.  

Background

Deoxyribonucleic acid (DNA) is a double helix compound that contains all of the hereditary genetic information for all organisms. This information is present within four small chemical units, called adenine (A), guanine (G), cytosine (C) and thymine (T), which are collectively called nucleotides. An “A” always pairs with a “T” on the opposite strand, while a “C” always pairs with a “G”. Nucleotides are the building blocks of DNA, and the order in which they are placed determines the information to be encoded.  We consist of approximately 3 billion base pairs. The process of encoding, itself, is a complex process that involves a large variety of specialized structures. 

Interesting Facts

Price of Sequencing

One of the greatest advancements in the field of genomics is the price required to sequence the whole genome. Sequencing is a multi-step process through which one can determine the order of the nucleotides. The initial step involves breaking down the genome of the organism into smaller fragments. The initial draft of the human genome was sequenced with a cost of approximately 300 million dollars. By the end of the HGP (2003), the cost of sequencing had been reduced to 150 million dollars. This was then further reduced to approximately 20 million dollars in 2006. Starting from 2008, and with the advancement of better sequencing tools, the price has significantly dropped to reach the current price of approximately 1000 to 3000 dollars. 

Foreign DNA

It is quite interesting to know that our DNA, as Homo sapiens, is not entirely our own. In other words, there are sections within our DNA that we have obtained externally, either from species that are similar to us or from viruses. Approximately 2% of non-African DNA contains segments from our closest cousins, the Neanderthal. It is suggested that these inherited gene variants are the reason why certain individuals are more susceptible to specific diseases, such as Crohn’s disease, or show certain physical characteristics. What is even more shocking is that 8% of our DNA consists of viruses that may have assimilated with our genetic material millions of years ago. Although this concept may sound strange, we have several examples of modern-day viruses that insert a fragment of their genetic material into our DNA.  One known retrovirus, called the Human Immunodeficiency Virus, otherwise known as HIV, performs a similar action within our immune system. The functions of these alien fragments are still being researched, with some providing protection, while others are harmful. 

Unity

Another interesting fact to know is that these 4 nucleotides are the only ones that make up the DNA of all living and nonliving organisms.  In other words, 50% of your genetic material is similar to that of a banana. While 98.5% is similar to that of a chimpanzee and approximately 99.9% is similar to the person next to you. This just shows that we are all somehow related to one another.

Diseases

We have already mentioned previously how modern medicine has benefitted from the HGP. We will now provide some interesting numbers and further applications in this section. The HGP helped scientists in the discovery of approximately 20,000 to 25,000 genes. Furthermore, we have been able to identify more than 2000 genetic diseases. This has revolutionized the field of medicine and contributed to the progress we see in the modern world. We can now determine genetic risks involved with certain diseases and whether or not patients may respond to certain medications.  A great example, although debatable, is the actress Angelina Jolie’s decision to undergo a double mastectomy after discovering a genetic variant that increases her chances of breast cancer.

It is interesting how something as small as DNA, which had been considered useless and a waste of money and time, can provide a vast quantity of data on someone’s past, present and future. Since the initiation and conclusion of the human genome project, a lot of discoveries and advancements have been made in the field of genomics.