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There are over 450 known genetic defects that affect immune and hematologic development and function. Treatments for the most serious diseases often involve a bone marrow stem cell transplant, which requires chemotherapy that raises the patient’s risk of transplant rejection. Gene therapy is a less toxic solution that corrects the defects at the cellular level.

At the Centre hospitalier Sainte-Justine affiliated with Université de Montréal, Dr. Fabien Touzot cares for patients with rare immune system diseases. His research aims to find ways to treat them by improving genome editing strategies for blood cells and their precursors, and he is currently focused on optimizing the effectiveness of CRISPR and prime editing technologies. CRISPR is a method that cuts DNA molecules at very specific points, like molecular scissors, as prime editing also synthesizes the cut end to significantly increase the accuracy and efficacy of the repair. These leading approaches are offered through the research centre’s Cas-tech gene editing platform to develop new gene therapies.

Dr. Touzot has thus perfected methods to correct genetic anomalies and the immune system disfunctions they bring about. They help provide treatment options for many patients, including those diagnosed with a hereditary immune disease like COPA syndrome, which triggers devastating inflammation. Robust protocols to rectify a gene defect like sickle cell anaemia or macrophage activation syndrome were also established. The impacts of the research are therefore helping to advance gene therapy approaches for many of the rare and orphan diseases major pharmaceutical companies tend to neglect. 

References:

Gene therapy for inherited immunodeficiency. PMID : 24823313

Long-term outcomes of lentiviral gene therapy for the β-hemoglobinopathies: the HGB-205 trial. PMID : 35075288

CRISPR/Cas9 therapeutics: a cure for cancer and other genetic diseases. PMID : 27250031

Prime editing for precise and highly versatile genome manipulation. PMID : 36344749

Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease. PMID : 27048656