Major funding for research project on cystic fibrosis

A new research project focusing on rare genetic mutations that are linked to cystic fibrosis just received $600,000 in funding over three years from Génome Québec and Cystic Fibrosis Canada. Led by Dr. Larry Lands, Senior Scientist at the Research Institute of the McGill University Health Centre, and Jacques-P. Tremblay, Professor at Laval University, the study targets rare orphan mutations in the CFTR protein for which there is no treatment option.

While there are therapies that improve the function of the defective CFTR protein that causes cystic fibrosis, these therapies do not work in people who have rarer genetic mutations that fail to produce CFTR proteins, leaving them without the life-changing treatment options that others with more common mutations can access. Genetic profiling of cystic fibrosis patients reveals that several of these rare mutations are especially prevalent in Quebec. Cystic fibrosis is the most common, fatal genetic disease affecting children and young adults in Canada.

The project “Leave No One Behind: development of a genetic therapy for people living with cystic fibrosis who do not respond to available modulators” proposes using a gene modification technique called prime editing to permanently correct mutations in the CFTR protein. The research team will explore ways to deliver prime editing by injection or inhalation of lipid nanoparticles to correct CFTR gene mutations in the airway cells of the lung.

In the lab, a cell model will be created using a common Canadian CFTR gene mutation unresponsive to available modulators. This model will serve as the first step in testing the effectiveness of the prime editing therapy. The team will also assess the therapy using a variety of methods, including cells from people with cystic fibrosis, to identify optimal ways of delivering it.

“This work could pave the way for clinical trials, offering hope to those people with cystic fibrosis whose mutations currently lack effective treatments,” says Dr. Lands, also Director of the Respiratory Medicine / Pulmonology Division at the Montreal Children’s Hospital.

This project brings together a unique multidisciplinary team with diverse backgrounds and experiences. Apart from project leaders, the study can benefit from the expertise of Christine Bear (Senior Scientist, SickKids), Danuta Radzioch (Biomedical Sciences, McGill University), Darcy Wagner and Jun Ding (Biological and Biomedical Engineering, McGill University), Christine DeWolf (Chemistry and Biochemistry, Concordia University), Nathan Luedtke (Chemistry, McGill University) and Ajitha Thanabalasuriar (Pharmacology and Therapeutics, McGill University).

One honor awaits another

In addition to the funding announcement, Dr. Lands also received the King Charles III Coronation Medal in recent weeks. This was awarded by the Canadian Lung Association for his work on modulation of inflammation and exercise limitation in cystic fibrosis.

Congratulations on these many achievements!