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Health Sciences

Marie Trudel

Régulation de la globine humaine

Professeure/chercheuse titulaire

Faculté de médecine - Département de médecine

Secondary numbers: 514 987-5712 (Travail 1) 514 987-5585 (Télécopieur) 514 987-5713 (Travail 2)
Secondary email: (Travail)


Research expertise

Our laboratory studies the regulation of gene expression during development by using transgenic and knock-out approaches. We created several mouse models of human genetic diseases. Our research has two main focuses, the first consists in studying human globin regulation of hemoglobin switching during development and the role of transcriptional factors during differentiation, the second consists in understanding the genetic and molecular mechanisms of polycystic kidney disease.

The human globin gene family is tissue- and stage-specific. The sequential expression of different genes forming the loci of α- and β-globin at different stages of mammalian development is called hemoglobin switching. Presently, the molecular mechanisms underlying this switch still remain unknown. Our research thus focuses on the elucidation of this phenomenon in vivo through genetic approaches including epigenetic and epistasis factors.We have generated a murine sickle cell model by the expression of a modified hemoglobin. Our results show that this transgenic mice displays the biochemical and structural characteristics of sickled red blood cells and reproduce an in vivo pathology similar to that observed in sickle cell patients. We are developing different innovative approaches in gene therapy that will be useful for treatment of this disease.Polycystic kidney disease is the most frequent inherited genetic disorder in humans (1/500) and an atypical form of cancer. We have generated a unique genetic model by targeting expression of the proto-oncogene c-myc in transgenic mice. The phenotype of this disease is present in utero and leads to renal insufficiency in adulthood. This murine model is a unique and essential tool for understanding polycystic kidney disease pathogenesis and eventually for development of treatment. Our research also consists in determining the role of the Pkd1 gene in the human disease that we cloned in order to define its role in pathogenesis, cellular differentiation, and signaling pathway(s).

Affiliations and responsabilities

Research affiliations

Research units


Affiliated institutions

  • Institut de recherches cliniques de Montréal (IRCM)

Teaching and supervision

Student supervision

Theses and dissertation supervision (Papyrus Institutional Repository)


Analyses intracellulaires des interactions et de la signalisation de la polycystine-1

Graduate : Lake, Jennifer
Cycle : Master's
Grade : M. Sc.

Rôle du facteur de transcription BP1 dans la régulation des gènes du locus humain de beta-globine

Graduate : Ah-Son, Nicolas
Cycle : Master's
Grade : M. Sc.

Évaluation des désordres cardiovasculaires chez des souris bêta-thalassémiques

Graduate : Stoyanova, Ekatherina
Cycle : Doctoral
Grade : Ph. D.

c-Myc dans le développeemnt rénal et la polykystose rénale autosomique dominante

Graduate : Couillard, Martin
Cycle : Doctoral
Grade : Ph. D.

Development of cellular and gene therapies for b[beta]-Thalassemia and sickle cell disease

Graduate : Felfly, Hady
Cycle : Doctoral
Grade : Ph. D.

Caractérisation du rôle de la protéine homéotique BP1, dans la régulation des gènes adultes de B[bêta] globine

Graduate : Eiymo Mwa Mpollo, Marthe Sandrine
Cycle : Master's
Grade : M. Sc.

Étude in vivo du rôle du domaine extracellulaire de la polycystine-1

Graduate : Kurbegovic, Almira
Cycle : Master's
Grade : M. Sc.

Caractérisation des mécanismes moléculaires de la polykystose rénale autosomique dominante

Graduate : Thivierge, Caroline
Cycle : Master's
Grade : M. Sc.

BP1, un gène homéotique distal-less et son rôle dans l'érythropoïèse murine définitive

Graduate : Beaudoin, Mélissa
Cycle : Master's
Grade : M. Sc.


Research projects

2018 - 2024

Targeting Kcnn4 in polycystic kidney disease : a preclinical mechanistic proof of concept study

Lead researcher : Marie Trudel
Funding sources: IRSC/Instituts de recherche en santé du Canada
Grant programs: PVXXXXXX-(PJT) Subvention Projet
2018 - 2021

Drug Inhibition of KCa3.1 channel KCNN4 as a Strategy to Retard Cyst Growth and Disease Progression in Autosomal Dominant Polycystic Kidney Disease

Lead researcher : Marie Trudel
Funding sources: USAA/United States Army
Grant programs:
2014 - 2017

Understanding transcriptional and epigenetic control by Gfi1b towards the development of a therpy for sickle cell disease

Lead researcher : Marie Trudel
Funding sources: Société canadienne du sang
Grant programs:
2014 - 2016

A testof senicapoc for the treatment ao autosomal dominat polycystic kidney disease

Co-researchers : Marie Trudel
Funding sources: Allen Foundation inc.
Grant programs:
2010 - 2015


Lead researcher : Marie Trudel
Funding sources: Société canadienne du sang
Grant programs:
2011 - 2013


Lead researcher : Marie Trudel
Funding sources: PKD Foundation
Grant programs:


Publications and presentations


  • Biochemistry
  • Genetics

Areas of expertise

  • Genetic Screening of Diseases
  • Genetics and Heredity
  • Genetic Diseases
  • Gene Therapy