Sequencing the Human Genome


I loved studying Biology for my first degree. Learning about life and its incredible complexity and ability to adapt and survive was always so interesting. I was always the most curious about the DNA and its Genes: the components that dictate how cells – life at its most base level – should behave. That’s why I think that the Human Genome Project – the research project that successfully mapped and sequenced the Human Genome – is one of the crowning accomplishments of Human History.

The Human Genome took two decades with the efforts of hundreds of scientists from dozens of countries across the globe and billions of dollars to complete. Since then, the technology used to sequence genomes has become cheaper and cheaper to the point where personal whole genome sequencing may become a feasible reality in the future. If this becomes possible, it will open up incredible opportunities in the field of medicine and drug research: drugs could be tailored specifically to a patient’s genes, or certain genes that indicate high probabilities of specific ailments could be targeted and mitigated with treatments and therapies.

But how did they sequence the Human Genome in the first place? The nucleotide ‘A’s, ‘T’s, ‘G’s, and ‘C’s that make up the DNA are extremely small – only 8 or 10 atoms wide! Plus, they are packed together in the cell like a wadded-up string. So the solution that scientists came up with was to break the DNA into small pieces and then use enzymes to make thousands of copies of each genome piece. Because the nature of DNA means that each strand eg. ‘AGTTC’ must have a complement, eg. ‘TCAAG.’ Exploiting this, scientists can mix ‘letters’ with enzymes helps ‘mark’ them for later identification. By mixing these marked ‘letters’ with the previous DNA pieces, scientists can observe which markers were bonded and use that to determine the complement to get the sequence of the DNA piece that they are observing. The DNA pieces are then able to be placed in order based on these markers and then stitched together with computer programs.

While the end result of this sequencing may look like just a bunch of letters jumbled together, patterns in the ‘code,’ the genes, determine the production of proteins that influence everything about the cells and how they behave – and even one small letter change in these genes could potentially lead to huge changes in the cells!

Even though the grand accomplishments of Humanity usually call to mind something like exploring the ocean and its continents or even putting a man on the Moon; to me, the deep insight into what makes Humans Human will always be the greatest achievement.

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