I joined the CHU Research Center and Laval University in 1997 as an independent researcher and assistant professor. I had previously completed 4 years of postdoctoral training in the United States at Columbia University (New York), Baylor College of Medicine (Houston) and Mount-Sinai Hospital (New York). Previously, I obtained a PhD in Immunology from the Pierre & Marie Curie University in 1993 (Paris). Throughout all these years of training, I mainly worked in gene therapy on specific disease applications and in the development of viral vectors.
Epidermolysis Bullosa (EB)
Epidermolysis Bullosa (EB) is a genetic disease that affects about 3/100,000 people (300 to 500 patients in Canada). EB is a hereditary skin disorder that is characterized by skin and/or mucosal detachment in the form of blisters during friction or trauma. Squamous cell carcinomas frequently develop on surfaces prone to skin detachment. There are more than 20 different types of EB, belonging to 4 main groups: simple EB, dystrophic EB, junctional EB and Kindler Syndrome. The severity of the disease ranges from mild to very mutilating, and in some cases the disease can lead to death. EB is an incurable disease, and palliative care is the only solution available to patients.
Recessive dystrophic EB is caused by the mutation of the COL7A1 gene encoding type VII collagen, which forms the necessary structures (anchoring fibrils) for adhesion between the dermis and the epidermis. Gene therapy is a feasible therapeutic approach for patients with recessive dystrophic EB. We are developing an ex vivo gene therapy program for dystrophic EB, the goal of which will be to transplant patients with reconstructed skin in vitro, with corrected keratinocytes and fibroblasts. We are also studying the reversions (« natural gene therapy ») that may appear in certain places in EB patients to be able to cultivate these cells in vitro and to make skin that will then be grafted onto the patient’s diseased parts.
Data not available
- Ghani, KarimEmployeeL'Hôtel-Dieu de Québec+1 418-525-4444, extension 15178+1 418-525-4444, extension 15536+1 email@example.com@crchudequebec.ulaval.ca
Canada G1R 2J6
- Roy, SylvieEmployeeL'Hôtel-Dieu de Québec+1 418-525-4444, extension 15536+1 418-691-5439Sylvie.Roy@crchudequebec.ulaval.ca
9, rue McMahon
Canada G1R 3S3
EPH receptor tyrosine kinases phosphorylate the PAR-3 scaffold protein to modulate downstream signaling networksJournal Article
Cell Rep, 40 (1), 2022.
Efficient Gamma-Retroviral Transduction of Primary Human Skin Cells Using the EF-c Peptide as a Transduction EnhancerJournal Article
Curr Protoc, 2 (1), 2022.
A stable platform for the production of virus-like particles pseudotyped with the severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) spike proteinJournal Article
Virus Res, 295 , 2021.
Peel Test to Assess the Adhesion Strength of the Dermal-Epidermal Junction in Tissue-Engineered SkinJournal Article
Tissue Eng Part C Methods, 26 (3), 2020.
Generation of High-Titer Self-Inactivated γ-Retroviral Vector Producer CellsJournal Article
Mol Ther Methods Clin Dev, 14 , 2019.
Translating the combination of gene therapy and tissue engineering for treating recessive dystrophic epidermolysis bullosaJournal Article
Eur Cell Mater, 35 , 2018.
Strategies Integrating Gene Therapy and Tissue Engineering into the Development of Treatments for Recessive Dystrophic Epidermolysis BullosaBook Chapter
Mullins H (Ed.): Epidermolysis bullosa (EB) : prevalence, clinical manifestations and management, pp. 77-114, New York, NY, Nova Science Publishers, Inc, 2016, ISBN: 9781634842747.
The size of the unbranched aliphatic chain determines the immunomodulatory potency of short and long chain n-alkanolsJournal Article
J Biol Chem, 288 (34), 2013.
Nilotinib and imatinib inhibit cytarabine cellular uptake: implications for combination therapyJournal Article
Leuk Res, 36 (10), 2012.
Gap junctions in human glioblastomas: implications for suicide gene therapyJournal Article
Cancer Gene Ther, 18 (9), 2011.
- Combining tissue-engineered skin with ex vivo gene therapy correction to develop a treatment for epidermolysis bullosa, from 2022-04-01 to 2024-03-31
Recently finished projects
- Towards an epidermolysis bullosa clinical trial with tissue-engineered skin after ex vivo gene therapy correction, from 2020-08-01 to 2023-01-31