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
Québec, Québec
Canada G1R 2J6

Latest news

Data not available

19 entries « 1 of 4 »

Dakiw Piaceski A, Larouche D, Ghani K, Bisson F, Cortez Ghio S, Larochelle S, Moulin MJ, Caruso M, Germain L

Translating the combination of gene therapy and tissue engineering for treating recessive dystrophic epidermolysis bullosa.

Journal Article

Eur Cell Mater, 35 , pp. 73-86, 2018.

Abstract | Links:

Piaceski AD, Larouche D, Bisson F, Ghani K, Caruso M, Germain L

Strategies Integrating Gene Therapy and Tissue Engineering into the Development of Treatments for Recessive Dystrophic Epidermolysis Bullosa (Chapter 5)

Book Chapter

H, Mullins (Ed.): Epidermolysis bullosa (EB) : prevalence, clinical manifestations and management, pp. 77-114, New York, NY, Nova Science Publishers, Inc, 2016, ISBN: 9781634842747 / 163484274X.

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

The size of the unbranched aliphatic chain determines the immunomodulatory potency of short and long chain n-alkanols.

Journal Article

J Biol Chem, 288 (34), pp. 24948-55, 2013, ISSN: 0021-9258.

Abstract | Links:

Naud JS, Ghani K, de Campos-Lima PO, Caruso M

Nilotinib and imatinib inhibit cytarabine cellular uptake: implications for combination therapy.

Journal Article

Leuk Res, 36 (10), pp. 1311-4, 2012, ISSN: 0145-2126.

Abstract | Links:

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), pp. 674-81, 2011, ISSN: 0929-1903.

Abstract | Links:

19 entries « 1 of 4 »

Active projects

  • Centre de recherche sur le cancer, Subvention, Institutionnel - BDR, BDR - Centres de recherche reconnus, from 1996-05-01 to 2023-04-30
  • Centre hospitalier universitaire de Québec - 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

Recently finished projects

  • A gene therapy strategy for recessive distrophic epidermolysis bullosa., Subvention, Instituts de recherche en santé du Canada, Subvention de fonctionnement, from 2014-04-01 to 2017-03-31
  • Feasibility study on the production of skin substitutes from revertant gene corrected cells from DEB patients, Subvention, Epidermolysis Bullosa Medical Research Foundation, from 2016-04-01 to 2017-03-31
Data provided by the Université Laval research projects registery