Health Sciences
Marie Trudel
Régulation de la globine humaine
- Professeure/chercheuse titulaire
-
Faculté de médecine - Département de médecine
Secondary email:
trudelm@ircm.qc.ca
(Travail)
Profile
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
Membre
Affiliated institutions
- Institut de recherches cliniques de Montréal (IRCM)
Teaching and supervision
Student supervision
Theses and dissertation supervision (Papyrus Institutional Repository)
2021
Étude de la polycystine-1 délété de son motif coiled-coil sur les mécanismes intracellulaires in vivo
Graduate : Paul, Marie-Lorna
Cycle : Master's
Grade : M. Sc.
Cycle : Master's
Grade : M. Sc.
2018
Caractérisation du rôle de SCL dans la mégacaryopoïèse et la thrombopoïèse chez les souris transgéniques
Graduate : Sedzro, Josepha-Clara
Cycle : Master's
Grade : M. Sc.
Cycle : Master's
Grade : M. Sc.
2018
Analyses intracellulaires des interactions et de la signalisation de la polycystine-1
Graduate : Lake, Jennifer
Cycle : Master's
Grade : M. Sc.
Cycle : Master's
Grade : M. Sc.
2015
Characterization of polycystin-1 in ADPKD pathogenetic mechanism : biogenesis and functional implications by genetic approaches in mouse
Graduate : Kurbegovic, Almira
Cycle : Doctoral
Grade : Ph. D.
Cycle : Doctoral
Grade : Ph. D.
2013
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.
Cycle : Master's
Grade : M. Sc.
2010
Évaluation des désordres cardiovasculaires chez des souris bêta-thalassémiques
Graduate : Stoyanova, Ekatherina
Cycle : Doctoral
Grade : Ph. D.
Cycle : Doctoral
Grade : Ph. D.
2009
Analyse fonctionnelle de la polycystine-1 et de son domaine intracellulaire dans le développement de la polykystose rénale autosomique dominante
Graduate : Cote, Olivier
Cycle : Master's
Grade : M. Sc.
Cycle : Master's
Grade : M. Sc.
2008
c-Myc dans le développeemnt rénal et la polykystose rénale autosomique dominante
Graduate : Couillard, Martin
Cycle : Doctoral
Grade : Ph. D.
Cycle : Doctoral
Grade : Ph. D.
2008
Étude de la fonction du promoteur foetal A[gamma] dans la régulation de la commutation de l'hémoglobine foetale à adulte
Graduate : Beauchemin, Hugues
Cycle : Doctoral
Grade : Ph. D.
Cycle : Doctoral
Grade : Ph. D.
2008
Development of cellular and gene therapies for b[beta]-Thalassemia and sickle cell disease
Graduate : Felfly, Hady
Cycle : Doctoral
Grade : Ph. D.
Cycle : Doctoral
Grade : Ph. D.
2008
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.
Cycle : Master's
Grade : M. Sc.
2006
Étude in vivo du rôle du domaine extracellulaire de la polycystine-1
Graduate : Kurbegovic, Almira
Cycle : Master's
Grade : M. Sc.
Cycle : Master's
Grade : M. Sc.
2005
Caractérisation des mécanismes moléculaires de la polykystose rénale autosomique dominante
Graduate : Thivierge, Caroline
Cycle : Master's
Grade : M. Sc.
Cycle : Master's
Grade : M. Sc.
2004
BP1, un gène homéotique distal-less et son rôle dans l'érythropoïèse murine définitive
Graduate : Beaudoin, Mélissa
Cycle : Master's
Grade : M. Sc.
Cycle : Master's
Grade : M. Sc.
2002
Study of ℓ-globin locus polymorphisms in hemoglobin switching using the YAC system
Graduate : Drury, Gillian Louise
Cycle : Master's
Grade : M. Sc.
Cycle : Master's
Grade : M. Sc.
Projects
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
Co-researchers :
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
CHARACTERIZATION OF REGULATORY INTERACTIONS / COMPLEX IN HEMOGLOBIN SWITCHING
Lead researcher :
Marie Trudel
Funding sources:
Société canadienne du sang
Grant programs:
2011
- 2013
IN VIVO ANALYSIS OF ADPKD RENAL PATHOGENESIS TOWARD DEVELOPMENT OF THERAPIES
Lead researcher :
Marie Trudel
Funding sources:
PKD Foundation
Grant programs:
Outreach
Publications and presentations
Disciplines
- Biochemistry
- Genetics
Areas of expertise
- Genetic Screening of Diseases
- Genetics and Heredity
- Genetic Diseases
- Gene Therapy