Cystic Fibrosis Canada-supported study published in Science, advancing hope for people with rare CF mutations

A study supported by Cystic Fibrosis Canada has been published in Science, one of the world's most respected research journals. Led by Dr. Bowen Li at the University of Toronto, the research explores a promising new approach for people with cystic fibrosis whose rare genetic mutations leave them with few or no effective treatment options today.  

“The world of cystic fibrosis is changing, but not everyone is benefiting equally from today’s treatments. That’s why Cystic Fibrosis Canada made a deliberate commitment to invest in research focused on the unmet needs that remain, including those who have rare mutations that currently have no therapies,” says Kelly Grover, President & CEO of Cystic Fibrosis Canada. “This publication marks an exciting milestone for the cystic fibrosis community and for Canadian research. For people with rare mutations who are still waiting for effective therapies, progress cannot come soon enough. Canadian researchers helped discover the CF gene and today, Canadian researchers are helping shape the next generation of genetic therapies. We are proud to help fuel made-in-Canada innovation that has the potential to change lives around the world.” 

While highly effective CFTR modulators have transformed the lives of many people with cystic fibrosis, not everyone has benefited equally. For some people with rare genetic mutations, effective treatment options still do not exist. Research like this is helping move us closer to a future where no one with CF is left behind. 

Publication in Science reflects both the significance of the research and the strength of Canadian leadership in cystic fibrosis innovation.  The study highlights the potential of new genetic approaches to address unmet needs for people with rare CF mutations who currently have limited treatment options. 

Quotes: 

"As a 39 year old with cystic fibrosis it always brings great joy to hear of new scientific progress in the realm of CF research. Those of us with rare mutations, like myself, who do not qualify for the new game changing modulators see hope for all of our futures with every new step forward. It's investments in research like Dr. Li's that brings us hope of a day when all of us living with cystic fibrosis will breathe a little easier." 

–Chris B. from Ontario who lives with cystic fibrosis 

"As someone living with rare mutations of the CFTR gene, I've watched life-changing treatments become available for many people in the cystic fibrosis community, knowing they aren't yet an option for me. That's why research like this matters so much. It offers hope that one day people with rare CF mutations will have an effective treatment option. Seeing scientists explore new approaches to address the underlying cause of cystic fibrosis gives me optimism for the future and reminds me that continued investment in research can change what's possible for people like me." 

– Luca P. from British Columbia who lives with cystic fibrosis 

While further research is needed, this publication marks an important milestone in the search for new treatment options for people with cystic fibrosis who do not currently benefit from available therapies. It is also a reminder of what is possible when researchers, funders, and the CF community work together to advance innovation and create a future where no one with CF is left behind.