The Canadian Medical Hall of Fame: Looking back on a lethal gene

Touted by geneticists as making one of the most significant breakthroughs in human genetics in the past 50 years, Dr. Lap-Chee Tsui, O.C., the scientist who discovered the cystic fibrosis (CF) gene in 1989, is being highlighted for his achievement by The Canadian Medical Hall of Fame.  He is among six medical science inductees for 2012.

Collaborating with Dr. Francis Collins on the quest for the CF gene proved monumental in the discovery as Collins had recently developed a technique for quickly analyzing DNA. In May of 1989, Drs. Tsui and Collins were attending a scientific conference at Yale University when they received news from Tsui’s lab that his research team had located a mutation in DNA samples from patients with CF that did not exist in people without the disease. Containing their excitement from fellow colleagues at the conference, Tsui and Collins wanted to be sure the results were accurate. Four months later their research findings were published in Science; the cystic fibrosis gene had been discovered.

“I have always been fortunate to have a team of highly talented and dedicated people around me,” says Dr. Tsui. “I am glad that our identification of the CF gene has been able to pave the way to better treatment of the disorder.”
Cystic fibrosis is a multi-system disease that affects mainly the lungs and the digestive system. In the lungs, where the effects are most devastating, a build-up of thick mucus causes severe respiratory problems. Mucus and protein also build up in the digestive tract, making it difficult to digest and absorb nutrients from food.

Each week in Canada, two children are diagnosed with cystic fibrosis and one person dies from the disease. It is the most common fatal genetic disease affecting Canadian children and young adults. There is currently no cure for CF and the majority of CF-related deaths result from lung disease caused by chronic lung infections.

Dr. Johanna Rommens, who worked alongside Dr. Tsui and the CF team at The Hospital for Sick Children, described the discovery of the CF gene as one of the highlights of her career.

“Since the discovery, we have gained a much better understanding of cystic fibrosis, with new ways to think about managing the disease,” says Dr. Rommens. “The techniques we pioneered also laid the foundation for understanding many other genetic diseases. What has been, and continues to be surprising, is the complexity and complications of what happens when a gene fails in an organ.”

Over the past 22 years, Dr. Tsui’s discovery of the CF gene has improved our understanding of how the disease works; led to newborn screening for early detection of CF and carrier testing for parents; and opened the door to research targeting the root cause of the disease in hopes of finding more effective treatments and, one day, a cure.

“As a person with CF, my parents were told I would be lucky to see my 13th birthday,” says Sean Edwards. “I am now 35 years old and just received a double lung transplant 9 months ago. Without the help of Dr. Tsui, we wouldn’t have such great treatments for CF which allow many people to live into adulthood. His discovery brings us closer to finding a cure for this terrible disease.”

Dr. Tsui has been the recipient of a numerous awards and honours, both nationally and internationally including being appointed as an Officer of the Order of Canada in 1991; recipient of the Killam Prize by the Canada Council for the Arts in 2002; several honorary doctoral degrees; and the fifth floor of the University of Toronto’s Donnelly CCBR building was named after him in 2006.

“Dr. Tsui’s breakthrough remains as a monumental achievement in the history of cystic fibrosis research,” said Maureen Adamson, Chief Executive Officer of Cystic Fibrosis Canada. “With the discovery of the CF gene in 1989, Dr. Tsui turned an important corner in our ongoing journey and compels us to work harder as we set our sights squarely on finding a cure. His work has given hope to people and families with cystic fibrosis and is a cornerstone to our ongoing excellence in Canadian research funded by Cystic Fibrosis Canada.”

In 2011-2012, Cystic Fibrosis Canada invested nearly $600,000 in genetic and gene or cell therapy research. As a direct result of Dr. Tsui’s discovery in 1989, researchers are exploring ways to correct the basic defect that causes cystic fibrosis, as well as how genes other than the gene responsible for CF affect severity and other disease outcomes.

“I would also like to thank Cystic Fibrosis Canada for supporting our research from the very beginning, even at a time when most people thought we were looking for a needle in a haystack,” says Dr. Tsui. “This is indeed very much a Canadian success story!”

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