On April 25, the world celebrated DNA Day, which this year coincides with the 70th anniversary of the discovery of the double helix structure, and the 20th anniversary of the completion of the Human Genome Project1.
Canadians have been at the forefront of this project. In 1986, Montrealer Charles Scriver, a recently deceased eminent geneticist from McGill University, persuaded the famed Howard Hughes Medical Institute (HHMI) in the United States to bring together groups that could fund and execute the Human Genome Project. . Nobel laureates Walter Gilbert and James Watson attended this meeting and it was decisive for what followed.
Charles Scriver was well aware of the importance of human genome sequencing to clinical genetics and its impact on human health. The meeting was a major catalyst for the development of the Human Genome Project.
Inspired by Charles Scriver, a project to establish a proof of concept, or proof of concept, was necessary. It was provided by the discovery of the gene for cystic fibrosis2, a genetic disease that affects the respiratory and digestive systems, 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 wrote: “More broadly, cloning of the CF gene provides a quick start in the international effort to clone and map the entire human genome. »
Today, thanks to these Canadian scientific discoveries, CF patients have a life expectancy of 57 years.
Only one of these pioneers, however, was able to lead the extremely difficult human genome project. Francis Collins received Canada’s Gairdner International Award in 2002 for his outstanding leadership in this project, and in particular for the international effort to map and sequence the genomes of humans and other species.
Another Gairdner International Award winner recognized for his leadership in the Human Genome Project is James Watson. His discovery of the double helix won him a Nobel Prize in 1962.
There has been controversy, however: the experimental data on the double helix was actually an x-ray of a DNA crystal made by the British physicochemist Rosalind Franklin, who died prematurely at the age of 38, and deprived of the recognition of his research.
The consequences of the discovery of DNA and the sequencing of the human genome have been fundamental for medical research on a global scale.
As summarized by Francis Collins in 20213, genes for more than 5,000 rare diseases have been discovered, as well as for Alzheimer’s, schizophrenia, heart disease and cancer.
It is also thanks to DNA that we can trace the origins of our families, thanks to genetic genealogy. The Nobel Prize in 2022 has been awarded to Svante Pääbo, of the Max Planck Institute, Leipzig, for the new field of paleogenomics. His discoveries involving the complex sequencing of the genomic DNA of our extinct ancestors led to the discovery of a new branch of early humans, now known as the Denisovans.
Today, the genetic genealogy of modern and ancient humans has been developed by analyzing the DNA of over 7,000 different genomes. These new studies have defined the geographic location of our ancestors’ journey, dating back over 800,000 years!
The dedication of our remarkable researchers, Lap-Chee Tsui, Jack Riordan and Charles Scriver, inspired and led to the Human Genome Project.
One of Canada’s foremost journalists and political commentators, Paul Wells, recently lamented the decades-long deterioration of research funding in Canada.4
The country will continue to lose the talent it was proud of. In 2019, Canada ranked 18th in the world for the number of researchers per 1,000 people, down from 8th in 2011. Such a loss is unsustainable to meet the challenges of an inevitable next pandemic, climate change and the ravages of disease.
Charles Scriver, Lap-Chee Tsui and Jack Riordan demonstrated the value of discovery research in Canada. It saves human lives on a global scale. Canada should remember its heritage.
