The role of Canadian scientific pioneers in the Human Genome Project shows why research funding is crucial

On April 25, the world will celebrate DNA daymarking two events: the 70th anniversary of the discovery of the double helix and the 20th anniversary of the Human Genome Projectwho sequenced the human genetic blueprint for the first time.

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

The eminent Canadian medical geneticist Charles Scriver of McGill University, who has just died, convinced the Howard Hughes Medical Institute in the United States in 1986 to bring together the parties that could fund and execute the Human Genome Project. This objective was recognized as prescient.

The meeting was attended by Nobel laureates Walter Gilbert And James Watsonand 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 genome sequencing

Scriver was well aware of the human genome sequencing would have on clinical genetics and the impact it would have on patient health, including the identification of genetic causes of disease.

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

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

These pioneers accomplished the very difficult task of identify the genetic mutation in unaffected people (those with only one mutated gene). Cystic fibrosis is a recessive genetic disease, which means that a person must inherit two mutated genes – one from each parent – to develop the disease. Today, thanks to Canadian scientific discovery, patients with cystic fibrosis have a median survival age of 57 yearsagainst 35.9 years in 2001.

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

It was a rare event for a scientist to win a second international Gairdner Award, with Collins receiving his first Gairdner for the discovery of the CF gene, along with Tsui and Riordan, in 1990.

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

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

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

Learn more:
Closing the gender gap in the life sciences is a daunting task

The consequences of the discovery of DNA and the sequencing of the human genome have been monumental for global health research. As summarized in 2021 by Collinsthe genes for more than 5,000 rare diseases have been discovered as well as information on Alzheimer’s disease, schizophrenia, heart disease and cancer.

Amazingly, it is through DNA that we can all trace 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 complex sequencing of the genomic DNA of 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 DNA analysis of over 7,000 different genomes. This new study has defined the geographical location of the trajectory of our ancestors extending to over 800,000 years ago! DNA Day is a worthy celebration.

Can DNA Day matter 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 main reason for this was funding.

The Human Genome Project was largely funded by the U.S. National Institutes of Health for Laboratories of Robert Waterston at the University of Washington and Eric Lander at MIT. Additionally, John Sulston was funded in the UK as part of the trio that actually sequenced the human genome.

Journalist and political commentator Paul Wells recently lamented decades of deteriorating Canadian frontier research funding. In 2019, Canada ranked 18th in the world for the number of researchers per 1,000 people, down from 8th in 2011.

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

Scriver, Tsui and Riordan should inspire pride in the value of frontier research in Canada that saves lives around the world. Canada should remember its heritage on DNA Day.

John Bergeron thanks Kathleen Dickson as co-author.