Lung disease

Lung disease

Lung disease

Lung Disease

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Genetic lung diseases, including cystic fibrosis (CF), affect thousands of Canadians and can make breathing a life-threatening challenge from birth. CF alone affects over 4,500 people in Canada. While recent drug therapies have improved outcomes for many patients, approximately 10% of individuals with rare genetic variants remain without effective treatment options, and even existing medications require daily use, come with significant costs, and do not address the underlying genetic cause.

Canadian researchers are pioneering regenerative medicine and gene therapy approaches that aim to correct the root genetic defects rather than simply managing symptoms. These innovative strategies use cutting-edge gene-editing tools and inhalable delivery systems—such as lipid nanoparticles—to reach lung stem cells directly, offering the potential for durable, functional cures. By targeting the cells responsible for long-term tissue regeneration in the lungs, these therapies could transform treatment for cystic fibrosis and other rare genetic respiratory disorders.

Stem Cell Network researchers are advancing this field by developing precision gene therapies, preparing for Canada’s first GMP-compliant production of lung-targeted treatments, and moving toward clinical trials. From 2016-2028, SCN has invested over $5.1 million in lung disease research.

Dr. Bowen Li, University of Toronto, Ontario

Cycle 5, Round 1: Early Career Researcher Jump Start Awardee Inhalable Non-viral Gene Editing Therapy for Cystic Fibrosis

Cystic fibrosis (CF) is a life-threatening genetic disease that affects over 4,500 Canadians. Although recent therapies have improved outcomes for many patients, those carrying nonsense mutations—which prevent production of functional CFTR protein—remain without effective treatment options. Dr. Bowen Li’s research aims to fill this gap using a targeted, non-viral gene-editing approach.

His team is developing an inhalable therapy that delivers prime editors—next-generation gene-editing tools—directly to the lungs. These gene editors are encapsulated in lipid nanoparticles (LNPs) specifically engineered to penetrate thick airway mucus and reach basal stem/progenitor cells in the lung epithelium, which are essential for long-term tissue regeneration. The therapeutic potential of this platform will be evaluated using patient-derived airway organoids and animal models to determine its ability to restore CFTR function at the cellular level.

By targeting lung stem cells with precision gene editing, this approach offers the potential for a durable, functional cure for individuals with currently untreatable forms of CF. It may also serve as a broadly applicable strategy for other respiratory genetic disorders.

“For cystic fibrosis patients with nonsense mutations, there are no effective therapies today. Our goal is to change that by combining precision gene editing with inhalable delivery—offering a regenerative solution delivered directly to the lungs.”

Dr. Bernard Thébaud, The Ottawa Hospital and CHEO, Ontario

Cycle 5, Round 1: Accelerating Clinical Translation Award Advancing Gene Therapy for Rare, Genetic Lung Disease

One million Canadians—many of them children—live with rare genetic diseases, yet only a small fraction have treatment options. For babies born with genetic lung diseases, breathing can become a life-threatening challenge from day one.

Dr. Bernard Thébaud is developing a breakthrough gene therapy designed to correct the root cause of these conditions. His team has engineered a new, highly targeted delivery system—or “shuttle”—to transport healthy genes directly to the lung cells that need them most. This innovative approach could save lives and reduce the need for invasive treatments like mechanical ventilation and lung transplantation.

With support from the Stem Cell Network, the team is preparing for Canada’s first Good Manufacturing Practice (GMP)-compliant production of this lung-targeted gene therapy, with the goal of obtaining Health Canada approval for clinical trials.

If successful, this research could revolutionize the treatment of genetic lung diseases like cystic fibrosis and serve as a blueprint for tackling other rare conditions—bringing hope to families and driving innovation, commercialization, and job creation across Canada.

“We’re building a path from discovery to delivery—bringing gene therapy into the lungs of the tiniest patients who need it most.”

Dr. Amy Wong, The Hospital for Sick Children, Ontario

Cycle 5, Round 1: Fueling Biotechnology Partnership Award Gene Editors and Nanotech: A Bold New Path for Cystic Fibrosis

Cystic fibrosis (CF) is a fatal, genetic disease that affects about 4,500 people in Canada. While a drug called Trikafta™ has been a breakthrough for around 90% of those with CF, not everyone has benefited. Some patients don’t respond well, and for the 10% of people with rare CF gene variants, the drug isn’t an option at all. At the same time, this medication must be taken every day, costs over $300,000 a year, and its long-term effects are still uncertain.

Dr. Amy Wong and her team are working on a different approach—a potential one-time gene therapy to correct the underlying cause of CF in the lungs.

They are using tiny delivery vehicles called lipid nanoparticles (LNPs) to carry a new gene-editing tool, called Dualase, into the lungs. This therapy is being tested in airway cells derived from stem cells and in mouse models that carry human CF genes. While the main focus is curing CF, this technology could also help treat other lung diseases, such as lung cancer, surfactant deficiencies, and primary ciliary dyskinesia.

“Our long-term vision is a one-time gene therapy that can restore lung function in all individuals with cystic fibrosis—regardless of their genetic mutation.”