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Wednesday 12 May 2021 6:33 pm  |  Updated:  Thursday 13 May 2021 12:06 pm

The human genome project – From then to now

By: Dr. Keziya Ann Mammen (Pharm.D, MSc)

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Around 64 years ago, a group of scientists took biology to the next level: the molecular level. This provided us with revelations about the structure of the DNA helix and how genetic information flows through cells. Thus, molecular biology came into being.

Following this huge success, the early 1970s marked the emergence of two historical events that changed our perceptions of molecular biology.  The introduction of Recombinant DNA technology and Sangers DNA sequencing gave scientists belief in the dream that a day would soon come when the sequencing of a whole human genome would be possible.

Back in 1986, a geneticist named Thomas Roderick, along with his colleagues, coined the term ‘genomics’, and within a year it had started appearing in scientific literature This elevated the stature of ‘genomics’ and in October 1990, the Human Genome Project (HGP) began.

The Human Genome Project

Human Genome Project (HGP) was an international collaboration of scientists around the world with the single goal of sequencing and determining the base pairs that make up human DNA. The project deciphered the first sequence of 3 billion DNA letters that make up the human genome.  The project ended in April of 2003 after illustrating that 99.9% of the genetic make-up is exactly the same for the whole human race; and therefore that only 0.1% of our DNA is what makes us all different from one another.

Outcomes Of The Human Genome Project

Today, the whole genome is available to the public at the nucleotide sequence repository of the National Center for Biotechnology Information (NCBI).  And during the years since, there have been various new milestones and accomplishments.

The Human Genome project gave rise to two other fields of biology namely, ‘Comparative Genomics’ and ‘Bioinformatics’. Moreover, by 2009 NHGRI expanded the project and allowed us to understand the human evolution pattern; and to identify disease causing genotypic changes, oncogenes and the genetic mutations that lead to cancer. By identifying the genes causing these conditions, the new development of molecular medicine became possible, thereby integrating genomics into ‘mainstream’ medicine.

It is estimated that approximately 10 genes contribute towards multifactorial disease. Thanks to the Human Genome Project, identification of these genes will prompt molecular target discoveries that can lead to pharmaceutical interventions. It also opens the door to identifying the toxicological responses of individuals to certain compounds which highly vary from person to person, thus improving the development of new therapies and medicines.

Where We Are Today

The progress of the Human Genome Project in just three decades has been immense. Initially, it took six to eight years for the sequencing of human DNA, but now scientists are able to sequence a human genome in a single day with high precision.

Another notable achievement is that the cost of DNA sequencing has dropped from billions of dollars to just a few hundred dollars, marking the end the ‘early genomic era’, a period that will be remembered in history for the outstanding technological growth which has led eventually to home DNA tests being made available at low cost.

The next genomic era will see the mass adoption of artificial intelligence and data science platforms for the storing and using information about human genes and to study the biological function linked to every gene. Computational tools will then be combined with genome editing techniques such as CRISPR to achieve even greater success in molecular biology. 

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