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 firstname.lastname@example.org@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
Efficient human hematopoietic cell transduction using RD114- and GALV-pseudotyped retroviral vectors produced in suspension and serum-free media.Journal Article
Hum Gene Ther, 20 (9), pp. 966-74, 2009, ISSN: 1043-0342.
Characterization of an alternative packaging system derived from the cat RD114 retrovirus for gene delivery.Journal Article
J Gene Med, 11 (8), pp. 664-9, 2009, ISSN: 1099-498X.
Bystander effect in glioblastoma cells with a predominant cytoplasmic localization of connexin43.Journal Article
Cancer Gene Ther, 15 (12), pp. 823-31, 2008, ISSN: 0929-1903.
Immunosuppressive effect of isopropanol: down-regulation of cytokine production results from the alteration of discrete transcriptional pathways in activated lymphocytes.Journal Article
J Immunol, 181 (4), pp. 2348-55, 2008, ISSN: 0022-1767.
Diphtheria toxin mutant CRM197 is an inhibitor of protein synthesis that induces cellular toxicity.Journal Article
Toxicon, 51 (3), pp. 473-7, 2008, ISSN: 0041-0101.
Generation of a high-titer packaging cell line for the production of retroviral vectors in suspension and serum-free media.Journal Article
Gene Ther, 14 (24), pp. 1705-11, 2007, ISSN: 0969-7128.
Rescue of the immunotherapeutic potential of a novel T cell epitope in the Epstein-Barr virus latent membrane protein 2.Journal Article
Virology, 361 (2), pp. 253-62, 2007, ISSN: 0042-6822.
VSV-G pseudotyped, MuLV-based, semi-replication-competent retrovirus for cancer treatment.Journal Article
Gene Ther, 13 (20), pp. 1457-70, 2006, ISSN: 0969-7128.
A nuclear localization signal in the matrix of spleen necrosis virus (SNV) does not allow efficient gene transfer into quiescent cells with SNV-derived vectors.Journal Article
Virology, 338 (2), pp. 292-6, 2005, ISSN: 0042-6822.
RD114-pseudotyped retroviral vectors kill cancer cells by syncytium formation and enhance the cytotoxic effect of the TK/GCV gene therapy strategy.Journal Article
J Gene Med, 7 (4), pp. 389-97, 2005, ISSN: 1099-498X.
- Centre de recherche du CHU de Québec - Université Laval, Subvention, Centre hospitalier universitaire de Québec - Université Laval, Centres de recherche affiliés, from 2017-01-01 to 2099-12-31
- Centre de recherche sur le cancer, Subvention, Institutionnel - BDR, BDR - Centres de recherche reconnus, from 1996-05-01 to 2022-06-13
Recently finished projects
- (FRSQ 85461) Le développement d’une thérapie génique efficace et sécuritaire pour l’épidermolyse bulleuse récessive dystrophique et jonctionnelle. , Subvention, Fonds de recherche du Québec - Santé, Réseaux thématiques de recherche, from 2019-04-01 to 2020-03-31
- Feasability stuy on the production of skin substitutes from revertant gene corrected cells from DEB patients, Subvention, Epidermolysis Bullosa Medical Research Foundation, from 2018-04-25 to 2019-04-24
- Gene therapy for junctional epidermolysis bullosa, Subvention, Le Grand Défi Pierre Lavoie, Subvention pour projet de recherche sur une maladie héréditaire orpheline, from 2018-10-01 to 2019-09-30