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GÉNOME QUÉBEC AND CYSTIC FIBROSIS CANADA PARTNER TO LAUNCH: TACKLE RARE, ORPHAN CFTR MUTATIONS RESEARCH COMPETITION

June 12, 2024

Montréal, June 12, 2024 - It is with great enthusiasm that Génome Québec and Cystic Fibrosis Canada announce the launch of the Tackle Rare, Orphan CFTR Mutations Competition to support research on rare mutations for which no treatment is available, with the long-term goal of developing novel therapies. The two organizations aim to jointly invest $1.2M to support projects with a total budget of $300,000 - $600,000 per project for a period of three years. 

This competition targets research project proposals that have the potential to improve, in an inclusive manner, the well-being of all people affected by cystic fibrosis, and overall contribute to the democratization of research while increasing public awareness.  

Applications will need to support the following objectives:

  • Specifically address forms of cystic fibrosis caused by rare mutations that are not responsive to the treatments currently available and support the priorities of the cystic fibrosis community. Targeted mutations are class I mutations (nonsense, frameshift, splicing) that do not produce functional CFTR protein. 
  • Improve the understanding of the mechanism of these mutations and/or lay the basis for the development of novel therapies, using omics approaches.

In addition, the competition aims to mobilize the Québec research community, while ensuring the needs of the cystic fibrosis community are considered. This competition is open only to researchers affiliated with an eligible institution in the province of Québec 

Important information 

Registration is mandatory and the deadline to submit your application is August 27, 2024, at noon (EDT).  For more information, documents, and dates for this funding opportunity, please click here. 

For all questions, please contact Annina Spilker, Manager of programs and strategic initiatives, at: R-CFTR@genomequebec.com. 

We invite you to share this notice with people that could be interested in this competition.  

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About Cystic Fibrosis    

Cystic fibrosis is the most common fatal genetic disease affecting Canadian children and young adults. There is no cure. Of the Canadians with cystic fibrosis who died in the past five years, half were under the age of 38. Cystic fibrosis is a progressive, degenerative multi-system disease that affects mainly the lungs and 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. In addition to the physical effects of the disease, mental health concerns are emerging; anxiety and depression are common among this population. Double lung transplants are the final option for patients with end-stage disease; most fatalities of people with cystic fibrosis are due to lung disease.    

About Cystic Fibrosis Canada    

Cystic Fibrosis Canada has dramatically changed the cystic fibrosis story, advancing research and care that has more than doubled life expectancy. Since being founded by parents in 1960, Cystic Fibrosis Canada has grown into a leading organization with a central role engaging people living with cystic fibrosis, parents and caregivers, volunteers, researchers and healthcare professionals, government and donors, all working together to change lives through treatments, research, information, support and connection. Cystic Fibrosis Canada has launched a clinical trials network and today 100 per cent of our population can be referred to a trial - bringing new and improved treatments to our community. Cystic Fibrosis Canada has also set the standard for advocacy work, driving changes to the healthcare system to enable approval and funding for the life-changing medicine, Trikafta, at record speed. Because of this work, children born with the disease today will have a much different, more positive path than even a decade ago. While we celebrate that progress and are proud of the treatment options Cystic Fibrosis Canada helped bring to this country, we still have much work to do. Trikafta is not a cure. People are still very sick from this disease and far too many are dying far too young. We applaud this life-changing treatment, yet it means very little if not everyone can benefit from it. And for those who may never benefit from it, we need new solutions. We still have much work to do to ensure healthy, full lives for everyone. 

About Génome Québec 

Génome Québec’s mission is to catalyze the development and excellence of genomics research and promote its integration and democratization. It is a pillar of the Québec bioeconomy and contributes to Québec’s influence and its social and sustainable development. The funds invested by Génome Québec are provided by the Ministère de l'Économie, de l'Innovation et de l’Énergie du Québec (MEIE), the Government of Canada, through Genome Canada, and private partners. To learn more, visit www.genomequebec.com. 

Contacts 

Dr. Annina Spilker 
Manager of programs and strategic initiatives, Scientific Affairs 
Génome Québec 
aspilker@genomequebec.com 

Dr. Rachel Syme 
Program Director, Research 
Cystic Fibrosis Canada 
rsyme@cysticfibrosis.ca 

 


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