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, Québec
Canada G1R 2J6
+1 418-525-4444, extension 15537
+1 418-691-5439
Manuel.Caruso@crchudequeb...

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Ghani K, Boivin-Welch M, Roy S, Dakiw-Piaceski A, Barbier M, Pope E, Germain L, Caruso M

Generation of High-Titer Self-Inactivated γ-Retroviral Vector Producer Cells.

Journal Article

Mol Ther Methods Clin Dev, 14 , pp. 90-99, 2019, ISSN: 2329-0501.

Abstract | Links:

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:

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), pp. 303-13, 2010, ISSN: 1096-6080.

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 (1), pp. 141, 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), pp. e15753, 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), pp. 966-74, 2009, ISSN: 1043-0342.

Abstract | Links:

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Active 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
  • 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 2023-04-30

Recently finished projects

  • 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
Data provided by the Université Laval research projects registery