Importance of research funding | The Role of Canadian Scientists in the Human Genome Project

On April 25, the world celebrated DNA Day, which this year coincides with the 70^e anniversary of the discovery of the double helix structure, and the 20^e anniversary of the completion of the Human Genome Project¹.

John Bergeron

Professor Emeritus, Robert Reford Chair and Professor of Medicine at McGill University

Kathleen Dickson

Retired chief technician from the Montreal Neurological Institute

Canadians have been at the forefront of this project. In 1986, Montrealer Charles Scriver, a recently deceased eminent geneticist from McGill University, convinced the famous Howard Hughes Medical Institute (HHMI), in the United States, to bring together the groups that could fund and carry out the Human Genome Project. . Nobel laureates Walter Gilbert and James Watson attended this meeting and it was decisive for what followed.

Genome sequencing

Charles Scriver was well aware of the importance of human genome sequencing on 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 needed. It was provided by the discovery of the cystic fibrosis gene², 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, the cloning of the CF gene provides a quick start in the international effort to clone and map the entire human genome. »

These pioneers had accomplished the herculean task of identifying the gene in normal subjects carrying a single mutation causing cystic fibrosis in homozygous patients.

Today, thanks to these Canadian scientific discoveries, patients with cystic fibrosis have a life expectancy of 57 years.

The amazing possibilities of DNA

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 winner of the Gairdner International Prize, 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 was, however, controversy: the experimental data on the double helix was in fact 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 2021³the 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 7000 different genomes. These new studies have defined the geographical location of the journey of our ancestors, dating back more than 800,000 years!

Can DNA Day matter in Canada?

The dedication of our remarkable researchers, Lap-Chee Tsui, Jack Riordan and Charles 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 (NIH), for the laboratories of D^r Waterston, at the University of Washington, and D^r Eric Lander at MIT.

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 18^e world rank for the number of researchers per 1000 inhabitants, when it was at 8^e rank in 2011. Such a loss is unsustainable in meeting 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.

* John Bergeron and Kathleen Dickson thank Francis Glorieux (Shriners Hospital for Children of Montreal and the McGill University Health Centre) for his ideas, corrections and modifications.

Under Creative Commons license, this text was previously published by La Conversation: https://theconversation.com/le-role-des-scientifiques-canadiens-dans-le-projet-du-genome-human-montre-pourquoi-il -is-crucial-to-fund-research-204503