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.

L'Hôtel-Dieu de Québec
9 rue McMahon
2724-1
Québec, QC
Canada G1R 3S3

Latest news

Data not available

45 entries « 2 of 5 »

Cottin S, Gould PV, Cantin L, Caruso M

Gap junctions in human glioblastomas: implications for suicide gene therapy

Journal Article

Cancer Gene Ther, 18 (9), 2011.

Abstract | Links:

Desy O, Carignan D, Caruso M, de Campos-Lima PO

Methanol induces a discrete transcriptional dysregulation that leads to cytokine overproduction in activated lymphocytes

Journal Article

Toxicol Sci, 117 (2), 2010.

Abstract | Links:

Cottin S, Ghani K, de Campos-Lima PO, Caruso M

Gemcitabine intercellular diffusion mediated by gap junctions: new implications for cancer therapy

Journal Article

Mol Cancer, 9 , 2010.

Abstract | Links:

Roy V, Ghani K, Caruso M

A dominant-negative approach that prevents diphthamide formation confers resistance to Pseudomonas exotoxin A and diphtheria toxin

Journal Article

PLoS One, 5 (12), 2010.

Abstract | Links:

Ghani K, Wang X, de Campos-Lima PO, Olszewska M, Kamen A, Riviere I, Caruso M

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), 2009.

Abstract | Links:

Ghani K, Cottin S, de Campos-Lima PO, Caron MC, Caruso M

Characterization of an alternative packaging system derived from the cat RD114 retrovirus for gene delivery

Journal Article

J Gene Med, 11 (8), 2009.

Abstract | Links:

Desy O, Carignan D, Caruso M, de Campos-Lima PO

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), 2008.

Abstract | Links:

Cottin S, Ghani K, Caruso M

Bystander effect in glioblastoma cells with a predominant cytoplasmic localization of connexin43

Journal Article

Cancer Gene Ther, 15 (12), 2008.

Abstract | Links:

Qiao J, Ghani K, Caruso M

Diphtheria toxin mutant CRM197 is an inhibitor of protein synthesis that induces cellular toxicity

Journal Article

Toxicon, 51 (3), 2008.

Abstract | Links:

Ghani K, Cottin S, Kamen A, Caruso M

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), 2007.

Abstract | Links:

45 entries « 2 of 5 »
Signaler des ajouts ou des modifications

Active projects

  • Combining tissue-engineered skin with ex vivo gene therapy correction to develop a treatment for epidermolysis bullosa, from 2022-04-01 to 2025-01-31
  • Développement de greffons d’épiderme autologue en combinant thérapie génique et génie tissulaire pour traiter l’épidermolyse bulleuse jonctionnelle, from 2024-04-01 to 2025-03-31

Recently finished projects

  • Projets structurants ThéCell 2023-2024_Greffons d’épiderme autologue en combinant thérapie génique et génie tissulaire pour traiter l’épidermolyse bulleuse jonctionnelle, from 2023-04-01 to 2024-03-31
  • Towards an epidermolysis bullosa clinical trial with tissue-engineered skin after ex vivo gene therapy correction, from 2020-08-01 to 2023-01-31
Data provided by the Université Laval research projects registery