Human Genome: Story of Science’s Most Aspiring Project

by Madonna Watts D'Souza
Human Genome: Story of Science’s Most Aspiring Project

February 11, 2021

Hint: It's not about technology or astronomy this time. Instead, it's the very thing which sets you apart from everyone else and truly defines you.

“This isn’t as easy as it seems. That is too much information to collect.” “This is the absolute worst decision you will make for yourself and your career.” “This isn’t meant to be done by scientists. Have you seen its nature? It’s so repetitive. Leave it for the prisoners for it’s their job.”

These are some of the many backlashes a young Eric D. Green had to face for his decision, which drastically changed the world of biology and medicine. Like every young graduate on the verge of completing their degree, he wondered about his way ahead. Receiving both his MD and PhD degrees in 1987 looked like a path for him that was carved when it was the same year that the word ‘genomics’ was first coined.

As a soon-to-be-doctor practising his residency in pathology medicine, he worked under professor Maynard Olson. But Eric wasn’t the only mastermind who contributed to the world’s largest collaborative project to ever been executed.

If you still didn’t get what we’re talking about, it’s none other than the Human Genome Project.

The primary goal of this project was to determine the order of all 3 billion bases in the entire human genome; this process is called sequencing.

History of the Human Genome Project

Imagine standing face to face with a stranger and realising that 99.9% of your DNA matches with each other. But only 0.1% or to make our human body sound even more remarkable, more than 3 million Genome differences are what sets you and the stranger apart.

Those more than 3 million differences are not just responsible for your appearance. They are responsible for the way you run, walk, speak, what diseases you can fall easy prey to, how quickly will you understand something, how much will you enjoy chewing on a ghost pepper and so much more.

Before I tell you what the Human Genome Project is, let us first understand what “Genome” actually means. The word genome in simple terms means the complete assemblage of your DNA. From the number of base pairs to the full set of instructions on which your body functions, Your Genome has it all. It is the biological map of YOU.

What is the Human Genome Project?

The Human Genome Project is the ENTIRE COLLECTION of the Human Genome Sequence. THE ENTIRE THREE BILLION BASE PAIRS! This ambitious venture has paved the way for some of the most significant breakthroughs in biological science and medicine.

But one must wonder, how did people even acquire so much of data in the first place? And that too in the 20th Century where, forget WhatsApp, Snapchat and iMessage but even E-mails were scarce globally. Do not fret for I have that covered.

Having a whole map of the human DNA was first proposed by Dr Robert L. Sinsheimer. A man with a great mind extending society’s barriers, he set up a workshop at his institution, the University of California, Santa Cruz where he worked as a chancellor.

He invited renowned and inventive minds to talk about one of the most ambitious ventures any biologist hadn’t taken. In his workshop, he questioned what if we try to collect the entire Human Genome sequence? Wouldn’t that be amazing.

The sequencing of the human genome may help guide medical treatment, identify mutations associated with different types of cancers, and enhance the development of life-saving therapies.

Biological Rescue

Imagine all the problems that we’d no longer have to face. This led to a tiny and tender seed being sowed and tucked safely into the soil. However, this project’s feasibility and reach would lead to an extensive expenditure of Resources and Money.

Despite all odds after several workshops and getting minds to become aware and participate in this dream, On 1st October 1990 did the Human Genome Project begin with a deadline of 15 years.

With quite an uncertain future ahead, but with a mind of speeding up momentum in biological sciences, around 3000 scientists from three continents, six nations and 20 universities participated in mapping the complete Human Genome.

Just like in the words of Eric Green, “It was exhilarating because you felt you were a part of something important. But I was nervous because we didn’t know what we were doing.

The Human Genome Project, one of the most ambitious scientific projects ever undertaken, achieved a monumental goal: sequencing the entire human genome.

Extensive Group Effort

The very new year of 1990 was when James Watson (yes, the same man and Francis Crick who presented the double helix DNA structure in 1953) was appointed as the Human Genome Project Head. However, due to conflicts with the National Institute of Health (NIH) director Bernadine Healy, he abruptly left the project.

This was when Francis Collins took charge of the project in place of Watson and continued. Eric Green in 1992 was appointed as the Assistant Professor of Pathology and Genetics as well as a co-investigator in the Human Genome Center, Washington University.

His role in sequencing the Human Genome Project was important as well. In 1994, he joined the recently established Intramural Research Program of the National Center for Human Genome Research, which was later renamed to the National Human Genome Research Institute (NHGRI). And he still works there!

But, Was it all a Cakewalk?


Of course not! Not every successful race has a clean road. Many other bumps had come along with the progression of the project. From harsh criticism to maintaining connections with each other. Time was of the essence, and so was communication.

However, the only reliable communication modes were fax machines and the deficient number of e-mails some scientists had. Green recalls how he had received a fax with tiny handwritten sequences of the genome, adding to the data. Extensive meetings were held annually in May to discuss the process and strategies of the project.

Anyone and everyone in the field of Genomics would attend them religiously according to Green. Other problems faced were the cultural differences, international laws, ethical backlash and strict regulations. Despite all of this, they collected the sequences from volunteers kept anonymous for security reasons.

Blood Research and Community

But the vials of blood they contributed have helped humanity reach even farther in science. In 1998, things took a somewhat bewildering turn when Celera genomics decided to map out the whole genome themselves.

Led on by Craig Venter, the company challenged the scientists, and hence a battle had begun. The project had now turned into a tough race with both the contenders trying to succeed fast. But this wasn’t the basis the project was established? Where did the nobility of this project go? It looks like one man had enough of the competition.

Former US President Bill Clinton dabbled in the affairs and ended the competition and declared that both The Human Genome Project and Celera would co-publish their data. On 26th June 2000, the “working draft” of the sequence was revealed on both sides in a White House ceremony. Albeit there were trust issues between both the sides, looks like this was indeed a blessing in disguise.

This helped ramp up the speed of the project. And finally, in April 2003, 2 years ahead of the deadline, the entire sequence mapped out by The Human Genome Project was immediately made available to the public with 99% of the genome having an accuracy rate of less than one error every 10,000 base pairs.

The Human Genome Project made a map of the genes of a human being.

One of a Kind

No one can even try to claim patents over the project since these are naturally within us. This is our most authentic essence of being a human. The project was expected to cost $3 Billion, but it saved $300K and finished with $2.7 Billion. The Human Genome Project had also turned a mature age of thirty years last month.

The Human Genome Project in recent years has been adding more and more information with every research breakthrough. Identifying genes that can cause Diabetes to the BRCA (BReast CAncer) 1 and BRCA 2 genes discovered in 1994 and 1995, respectively, increases the risk of Breast Cancer and Prostate Cancer.

Genomics has helped identify the core problems which can be targeted by gene therapy and other innovative treatments. Although this was the end of the world’s most considerable biological team effort to date, that does not mean it is the end for the Human Biology and Genomics.

To fulfil the full potential of genomics, researchers need to push the boundaries of science while every one of us—scientists and non-scientists alike—need to continually examine what we know to be accurate and know to be possible.

Each of us must raise awareness of health inequities and develop the empathetic will to address them, caring for others’ genomes as much as we do our own.” It looks like we have just scratched the surface of Human Biology and understanding the extraordinary DNA and Genetics. There’s way more exploration to it and a huge space for us to discover.

Who knows you might be the next one to help with the advancements of biological and medical sciences?


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