Twenty years ago, a New York Times headline read: "Genetic Code of Human Life Is Cracked by Scientists." The headline referred to the achievement of two lead scientists of the Human Genome Project, Francis S. Collins and John Craig Venter, that has since unlocked doors to better understanding genetics. It has been called an "instruction book" that defines humans.

We now know that the human genome is comprised of more than three billion base pairs within 23 chromosomes — which contain thousands of protein-coding genes. However, the ultimate goal of the Human Genome Project was sequencing these nucleotide bases, which are comprised of four chemical components that pair within strands. Sequencing involved figuring out the order of all the base pairs (adenine, guanine, cytosine, and thymine) within a DNA segment — a task once thought almost impossible.

However, it was a great deal of work that led to the announcement of a draft human genome at the White House in June 2000.

Both of these researchers presented their groundbreaking findings from different institutions simultaneously: one publicly funded, and the other private. However, their cooperation in the Human Genome Project was groundbreaking in genetics, and is also said to be an example of "big science" — more specifically, the cooperation of institutions to solve complex problems, says Michelle Dipp.

While the genetic code was cracked in the mid-1960s, gene sequencing was a far-off pipe dream due to limited science at the time. The genome project began in 1990, and the eventual goal was to sequence base pairs that comprise human DNA in a 15-year span. Before tackling the human genetic code, the team first successfully sequenced genomes for both yeast and worms, which led to bigger discoveries. While there were some concerns about genetic research from an ethical standpoint, the project integrated a program to address them from the start.

A Tale of Two Researchers

Francis S. Collins came on board as director of the National Center for Human Genome Research in 1993 and subsequently became leader of the Human Genome Project. It was during his last year of medical school that began in 1974 that Collins first was immersed in the field of human genetics.

He was a pioneer of "positional cloning," a technique that helped his team identify a gene for Cystic Fibrosis in 1989. Before taking the helm of the National Center for Human Genome Research, he was also part of an effort to identify the gene responsible for Huntington’s Disease.

Meanwhile, John Craig Venter (often going by J. Craig Venter), also had a medical background, with the U.S. Navy Medical Corps where he served in Vietnam. Upon his return, he decided upon a career in research that included studying adrenergic and muscarinic cholinergic receptors, which earned him an award.

By 1990, Venter had already been a leader in the use of automated gene sequencers, which were conceived in the late 1980s. These sequencers sped up the process through the use of a florescent dye stimulated by a laser, with the wavelengths read by a charged coupled device. This automated process is credited with helping to spawn next-generation sequencers, as well as help to complete the Human Genome Project within its 15-year timeline goal.

Venter also was recognized for using expressed sequence tags that had the ability to identify new genes and link them to chromosomes. It was in 1992 that Venter left the public National Institutes of Health (NIH) to become a lead in The Institute for Genomic Research (TIGR). By 1998, Venter joined the team at Applera Corporation, and subsequently became chief scientific officer at Celera Genomics.

Today, Francis S. Collins serves as director of the NIH, overseeing the government organization's biomedical research. J. Craig Venter founded the J. Craig Venter Research Institute (JCVI) in 2006, which is a not-for-profit organization that supports gene research.

The research institute helped fund the sequencing of the mosquito responsible for infecting humans with yellow fever, says Michelle Dipp, adding JCVI has since become a leader in synthetic biology.

Jointly Crossing the Finish Line

While both sides were making progress, it had essentially become a race to complete the research. An effort to bring them together included an announcement that the findings would become public domain information, explains Michelle Dipp. This allowed the two teams to collaborate more freely and led to the announcement of the draft genome in 2000, with the help of the U.S. and U.K. leaders of the day.

However, the first draft identified much fewer genes than had originally been anticipated. While not fully complete at the time, in 2003 the finished human genome (which was completed two years ahead of schedule) was released that closed the gaps left by the draft.

Thanks to the research, we now also know that there are more than 20,000 genes in humans, each with two copies (one from each parent). That's still below the initial estimates of 50,000 to 100,000 genes.

Research Set Stage for Future Breakthroughs, says Michelle Dipp

Because of the work on the human genome project, researchers now have a blueprint of the human body. The expectation is that this research will help better identify and treat genetic conditions, as well as deliver medicine more effectively based on genetic makeup. There's also hope that the knowledge will help to prevent certain genetic diseases to begin with.

Additionally, scientists are now also able to understand the genetic makeup of other organisms much as mice, adds Michelle Dipp. This helps them understand the role of the same genes in humans.

The project is also credited with inspiring other major initiatives including the International HapMap Project, an effort to identify common genetic variations among humans (however, one of the conclusions of the draft human genome was that people are 99.9% genetically identical.)

Scientists still are still trying to determine the function of certain human genes are responsible, but they are using knowledge from previous research as clues, notes Michelle Dipp.

Michelle Dipp, M.D. Ph.D., is a Co-Founder and General Partner of Biospring Partners, a New York-based growth capital firm. She completed her medical training at University of Oxford, and has spent her career investing in the future of life sciences.