Rare diseases and disorders

Rare Diseases and Disorders

The Canadian Organization for Rare Disorders (CORD) defines a rare disease as one that affects fewer than 1 in 2,000 people. There are now more than 7,000 identified rare diseases, which collectively impact 1 in 12 Canadians—or approximately 3.2 million people—two-thirds of them children. Conditions such as cystic fibrosis and muscular dystrophy are among the more well-known examples.

Less than 10% of rare diseases currently have an approved treatment, leaving most patients to manage chronic, often life-threatening conditions with limited options. The challenges extend beyond health—delayed diagnosis, high treatment costs, and the need for specialized care contribute to significant financial and emotional burdens for patients, families, and the healthcare system.

Researchers supported by the Stem Cell Network are advancing new ways to diagnose and treat rare diseases through regenerative medicine. Their work spans genetic and muscle disorders, corneal diseases, rare skin disorders, and inherited heart conditions, offering new hope for patients who have long gone without effective therapies.

Through an investment of over $7.6 million from 2016–2028, SCN continues to drive discoveries that bring us closer to precision regenerative solutions for rare diseases and disorders.

Cycle 5, Round 1: Clinical Trial Awardee Combining Gene Therapy and Tissue Engineering to Treat RDEB, a Rare Skin Disorder

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare but devastating genetic skin disorder affecting 300–500 Canadians. Caused by a lack of collagen VII—a critical protein that acts like a “glue” between skin layers—RDEB leads to fragile skin, chronic wounds, and in some cases, aggressive skin cancer, which is a major cause of death. Current treatments are palliative, involving costly and painful bandage changes that offer little long-term relief.

Dr. Germain’s team is leading a groundbreaking Phase I/II clinical trial at CHU de Québec-Université Laval. Their approach combines gene therapy and tissue engineering to create permanent skin substitutes from a patient’s own cells. These lab-grown skin grafts are genetically corrected to restore collagen VII production and are being tested as a durable, healing solution for RDEB wounds. If successful, this therapy could significantly improve quality of life for RDEB patients and reduce the physical, emotional, and financial toll on families and the healthcare system.

“For people with RDEB, even the slightest friction can cause painful skin wounds that are very hard to heal. By combining gene therapy with tissue-engineered skin, we hope to offer a lasting solution—one that not only restores their skin but also their dignity and quality of life.”

Cycle 5, Round 1: Impact Award Gene-Corrected Lab-Grown Skin to Treat a Rare and Fatal Blistering Disease

Junctional epidermolysis bullosa (JEB) is a rare and life-threatening genetic skin disorder that causes infants to be born with fragile skin prone to painful blisters and open wounds. There is currently no cure—patients must rely on protective bandages, and many have a shorter lifetime expectancy.

Building on their clinical trial success with another similar skin disease, Dr. Lucie Germain’s team is working on a groundbreaking new approach: growing healthy, personalized skin in the lab for JEB patients using their own genetically corrected cells.

The goal is to graft this corrected skin onto wounds, offering long-term healing and relief. The team has already enrolled a patient, built a biobank of their cells, and is now testing the mechanical strength and function of the skin substitute in the lab. If successful, this could be the first step toward a lasting treatment for children living with this devastating condition.

“We’re working to give children with JEB strong, healthy skin—and a chance at a longer, better life. By combining gene therapy with tissue engineering, we hope to create a safe and lasting treatment that addresses the root cause of this devastating disease, not just the symptoms.”

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.”

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.”

Cycle 5, Round 1: Early Career Researcher Jump Start Award Uncovering the Roots of a Rare Muscular Dystrophy in Quebec

Oculopharyngeal muscular dystrophy (OPMD) is a rare, inherited disease that affects the muscles of the face, eyelids, throat, and limbs—progressing slowly and sometimes leading to wheelchair use. While rare globally, OPMD is more common in Quebec, making it a particular concern for affected families in the province.

Dr. Marie-Claude Sincennes is working to understand how OPMD develops at the cellular level. The disease is caused by mutations in a gene called PABPN1, which plays a key role in regulating gene expression. However, the exact ways this mutation disrupts muscle function remain unknown.

Her research focuses on uncovering the role of PABPN1 in muscle stem and progenitor cells—two critical cell types believed to be involved in OPMD progression. By revealing how these cells are affected, this work lays the foundation for future therapies that could slow or stop disease progression.

“To develop effective treatments for OPMD, we first need to understand what’s going wrong in the cells. Our goal is to bring clarity to the molecular drivers of this disease—and ultimately bring hope to families in Quebec and beyond.”

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.”

Cycle 5, Round 1: Fueling Biotechnology Partnership Award (SCN-CQDM Joint-Funding Award) Stem Cell Liver Patches Offer Hope for Children with Rare Metabolic Disease

Children born with urea cycle disorders (UCD) cannot safely remove ammonia from their blood—a toxic substance that, if it builds up, can quickly lead to brain damage or death.

While liver transplants or future gene therapies may offer a long-term cure, these options often come too late, after a child has already suffered permanent harm. That’s why a fast and effective emergency treatment is urgently needed.

Dr. Massimiliano Paganelli and his team are working to address this gap by repurposing an innovative regenerative medicine product called Encapsulated Liver Tissue (ELT)—a stem cell–based product that mimics liver function and rapidly reduces dangerous ammonia levels. Unlike transplants, ELT doesn’t require immune-suppressing drugs. The therapy has already shown success in treating liver failure in preclinical models and will enter clinical trials in 2026.

In this project, Dr. Paganelli will test whether ELT can safely lower ammonia in children with UCD, both in the lab and in animal models. If successful, it could serve as a life-saving bridge to more permanent therapies, giving vulnerable infants and young children a fighting chance.

“Our goal is to protect the brains of children with UCD—buying precious time until a cure can be safely delivered.”

Cycle 5, Round 1: Impact Award Targeting Stem Cell Pathways to Strengthen Muscles in Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a rare but devastating pediatric muscle disease that affects 1 in every 5,000 Canadian male births. Although advances in care have extended life expectancy into early adulthood, DMD remains progressive and fatal, with no effective cure.

Historically, DMD has been considered a disease of muscle fiber breakdown—but recent studies have revealed that the muscle’s own stem cells are also impaired. These cells, essential for muscle repair, fail to function properly in people with DMD, contributing to worsening muscle weakness over time.

Dr. Natasha Chang’s research aims to restore the regenerative potential of muscle stem cells by targeting a disrupted molecular pathway known as JAK/STAT. By reactivating the ability of these cells to repair damaged tissue, her team hopes to open a new therapeutic avenue—one that could complement current approaches and offer renewed hope for stronger, healthier muscles in patients with DMD.

“We’ve discovered that stem cell dysfunction is a key part of disease progression in Duchenne muscular dystrophy. By targeting the root of this dysfunction, we hope to boost the body’s own ability to repair muscle—giving patients a stronger future.”

Cycle 5, Round 1: Impact Award Precision Gene Therapy for a Life-Threatening Immune Disease

Hemophagocytic Lymphohistiocytosis (HLH) is a rare, life-threatening disease mostly affecting children who inherit a mutated gene. It causes their immune systems to overreact to infections, leading to dangerous inflammation and organ failure. The main treatment—a donor stem cell transplant—carries serious risks due to this hyper-inflammatory response.

Dr. Elie Haddad is pioneering a new approach: a gene therapy that modifies a patient’s own bone marrow cells to correct the underlying genetic defect. Because the defective gene, perforin, must be active only in certain immune cells (T-cells and natural killer or NK cells), his team created a “specific promoter” to precisely induce its expression in T and NK cells but not in other blood cells.

This therapy will be tested in lab models and patient cells to see if it prevents harmful inflammation and restores immune function. If successful, it could provide children with HLH a safer, more effective treatment and may benefit other immune diseases.

“Our goal is to develop a gene therapy that precisely corrects the immune defect causing HLH — giving children a safer treatment option and a chance at a healthier life.”