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A puzzle depicting DNA strands, with pieces missing
The research and vision of Canadian scientists were key foundations of the Human Genome Project. Today, lack of funding threatens discovery research in Canada. (Pixabay)

Canadian science pioneers’ role in the Human Genome Project shows why it’s crucial to fund research

On April 25, the world will celebrate DNA Day, marking two events: the 70th anniversary of the discovery of the double helix and the 20th anniversary of the Human Genome Project, which sequenced humans’ genetic blueprint for the first time.

For the Human Genome Project, Canadians were at the forefront.

The distinguished Canadian medical geneticist Charles Scriver of McGill University, who recently passed away, convinced the Howard Hughes Medical Institute in the United States in 1986 to bring together the parties who could fund and execute the Human Genome project. This objective has been acknowledged as prescient.

The meeting was attended by Nobel Prize winners Walter Gilbert and James Watson, and is described as a major catalyst for the Human Genome Project in The Book of Man: The Human Genome Project and the Quest to Discover Our Genetic Heritage.

From inspiration to sequencing the genome

Scriver was well aware of the significance sequencing the human genome would have on clinical genetics and the impact it would have on the health of patients, including identifying genetic causes of diseases.

The Human Genome Project.

To move forward from Scriver’s inspiration, a proof of principle project was needed. This was provided by the discovery of the gene for cystic fibrosis (CF) by Lap-Chee Tsui and Jack Riordan, who were then at the University of Toronto, and Francis Collins, then at the University of Michigan. In 1990 they indicated:

More broadly, the cloning of the CF gene provides a fast start in the international effort to clone and map the entire human genome

These pioneers performed the very challenging task of identifying the gene mutation in unaffected people (those with a single mutated gene). CF is a recessive genetic condition, meaning a person must inherit two mutated genes — one from each parent — to develop the disease. Today as a result of Canadian discovery science, patients with cystic fibrosis have a median age of survival of 57 years, compared to 35.9 years in 2001.

One of these pioneers went on to lead the even more challenging Human Genome Project. Collins received Canada’s Gairdner International Award in 2002 for “his outstanding leadership in the Human Genome Project and particularly for the international effort to map and sequence human and other genomes.”

This was a rare occurrence of a scientist winning a second Gairdner International Award, with Collins receiving his first Gairdner for the CF gene discovery, along with Tsui and Riordan, in 1990.

Read more: Solving the puzzle of cystic fibrosis and its treatments is a Nobel Prize-worthy breakthrough

Another Gairdner International award winner recognized for leadership in the Human Genome Project is Watson. This year’s DNA Day will celebrate the 70th anniversary of the double helix, for which Watson was later recognized with a Nobel prize in 1962.

It was belatedly recognized that the experimental data for the double helix was actually an X-ray of a crystal of DNA by the late Rosalind Franklin.

Read more: Closing the gender gap in the life sciences is an uphill struggle

The consequences of the discovery of DNA and the sequencing of the Human Genome have been monumental for health research globally. As summarized in 2021 by Collins, the genes for over 5,000 rare diseases were discovered as well as insight into Alzheimer’s disease, schizophrenia, heart disease and cancer.

Charles Scriver, Canadian Medical Hall of Fame laureate 2001.

Astonishingly, it is through DNA that all of us can follow the trajectory of our families through genetic genealogy. Remarkably, the Nobel Prize in 2022 was awarded to Svante Pääbo of the Max Planck Institute in Leipzig, Germany for the new field of paleogenomics. His discoveries involving the intricate sequencing of genomic DNA from our extinct human ancestors led to the discovery of a new branch of human ancestors now known as the Denisovans.

Today, the genetic genealogy of modern and ancient humans has been extended through the analysis of the DNA of over 7,000 different genomes. This new study has defined the geographic location of the trajectory of our ancestors extending to over 800,000 years ago! DNA Day is a worthy celebration.

Can DNA Day be of significance in Canada?

The dedication of our accomplished discovery researchers Tsui, Riordan and Scriver inspired and led to the Human Genome Project. However, the project did not involve Canada. The major reason for this was funding.

The Human Genome Project was largely funded by the U.S. National Institutes of Health to the labs of Robert Waterston at Washington University and Eric Lander at MIT. In addition, John Sulston was funded in the United Kingdom as part of the trio who actually sequenced the human genome.

Journalist and political commentator Paul Wells recently lamented the decades of deteriorating funding for Canadian discovery research. In 2019, Canada was ranked 18th globally in researchers per 1,000 population down from its 8th rank in 2011.

Without funding improvements, Canada will continue to lose the talent it was once proud to have. This loss is unsustainable for meeting the challenges of future pandemics, climate change and the continuing ravages of disease.

Scriver, Tsui and Riordan should inspire pride for the value of discovery research in Canada that globally saves human lives. Canada should remember their legacy on DNA day.

John Bergeron gratefully acknowledges Kathleen Dickson as co-author.

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