Deoxyribonucleic acid, or DNA, is the hereditary material in humans and almost all other organisms. It was first isolated in 1869. However, it took over a century of development before the field of genomics — the study of genes and their functions — was to transform science and medicine.
In 1984, Italian-American virologist Renato Dulbecco suggested that given the advancements in genomics, knowing and ordering (or ‘sequencing’) the human genome — a human being’s complete set of DNA — would help understand cancer, the most common human genetic disease. Dulbecco, who won the Nobel Prize for Medicine in 1975, was more ambitious than many biologists; they argued that channelling resources to one big science project was risky and unfair to small research units, the usual way of doing science up until then. In 1988, however, the US National Academy of Science committee report endorsed the project, and funding to start a three-billion-dollar, fifteen-year programme was received.
The Human Genome Project officially began in October 1990. It was the largest international collaboration ever undertaken in biology. Thousands of scientists working in multiple centres across the US, China, Japan, France, Germany and the UK teamed up. It was decided to sequence the smaller genomes first, such as mouse, worm and fruit fly (all with significant gene similarities to human), before taking on the challenging human genome. On 14 April 2003, the Human Genome Project was declared completed.
Dulbecco died in 2012, but he lived to see his idea transform cancer research, as well as that of other genetic illnesses: from cystic fibrosis, resulting from mutations in a single gene, to Alzheimer’s, where many genes are involved. It helped doctors identify hereditary mutations and led to the development of new technologies and tools for testing and analysis.
What’s more the Human Genome Project marked a whole new approach to science that was to be crucial in combatting the Covid pandemic. Combining the expertise of biologists, engineers, computer scientists and mathematicians, it established an open approach to data sharing and open-source software, making the project’s findings accessible to everyone.
New initiatives have been set up to fine-tune the sequencing process, and significant advancements have been made in targeted and personalised treatments. In 2020, the Nobel Prize for Chemistry was awarded to Jennifer Doudna and Emmanuelle Charpentier for their work in genome editing. They developed a technique known as CRISPR/Cas9 that can repair errors in the DNA itself. This type of research was made possible by the Human Genome Project.