
Marie Trudel
Régulation de la globine humaine
- Professeure/chercheuse titulaire
-
Faculté de médecine - Département de médecine
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)
Étude de la polycystine-1 délété de son motif coiled-coil sur les mécanismes intracellulaires in vivo
Cycle : Master's
Grade : M. Sc.
Caractérisation du rôle de SCL dans la mégacaryopoïèse et la thrombopoïèse chez les souris transgéniques
Cycle : Master's
Grade : M. Sc.
Analyses intracellulaires des interactions et de la signalisation de la polycystine-1
Cycle : Master's
Grade : M. Sc.
Characterization of polycystin-1 in ADPKD pathogenetic mechanism : biogenesis and functional implications by genetic approaches in mouse
Cycle : Doctoral
Grade : Ph. D.
Rôle du facteur de transcription BP1 dans la régulation des gènes du locus humain de beta-globine
Cycle : Master's
Grade : M. Sc.
Évaluation des désordres cardiovasculaires chez des souris bêta-thalassémiques
Cycle : Doctoral
Grade : Ph. D.
Analyse fonctionnelle de la polycystine-1 et de son domaine intracellulaire dans le développement de la polykystose rénale autosomique dominante
Cycle : Master's
Grade : M. Sc.
c-Myc dans le développeemnt rénal et la polykystose rénale autosomique dominante
Cycle : Doctoral
Grade : Ph. D.
Étude de la fonction du promoteur foetal A[gamma] dans la régulation de la commutation de l'hémoglobine foetale à adulte
Cycle : Doctoral
Grade : Ph. D.
Development of cellular and gene therapies for b[beta]-Thalassemia and sickle cell disease
Cycle : Doctoral
Grade : Ph. D.
Caractérisation du rôle de la protéine homéotique BP1, dans la régulation des gènes adultes de B[bêta] globine
Cycle : Master's
Grade : M. Sc.
Étude in vivo du rôle du domaine extracellulaire de la polycystine-1
Cycle : Master's
Grade : M. Sc.
Caractérisation des mécanismes moléculaires de la polykystose rénale autosomique dominante
Cycle : Master's
Grade : M. Sc.
BP1, un gène homéotique distal-less et son rôle dans l'érythropoïèse murine définitive
Cycle : Master's
Grade : M. Sc.
Study of ℓ-globin locus polymorphisms in hemoglobin switching using the YAC system
Cycle : Master's
Grade : M. Sc.
Rôle de SCL dans l'hématopoïèse et la leucémie aiguë lymphoblastique chez la souris transgénique
Cycle : Master's
Grade : M. Sc.
Projects
Research projects
Targeting Kcnn4 in polycystic kidney disease : a preclinical mechanistic proof of concept study
Drug Inhibition of KCa3.1 channel KCNN4 as a Strategy to Retard Cyst Growth and Disease Progression in Autosomal Dominant Polycystic Kidney Disease
Understanding transcriptional and epigenetic control by Gfi1b towards the development of a therpy for sickle cell disease
A testof senicapoc for the treatment ao autosomal dominat polycystic kidney disease
CHARACTERIZATION OF REGULATORY INTERACTIONS / COMPLEX IN HEMOGLOBIN SWITCHING
IN VIVO ANALYSIS OF ADPKD RENAL PATHOGENESIS TOWARD DEVELOPMENT OF THERAPIES
Disciplines
- Biochemistry
- Genetics
Areas of expertise
- Genetic Screening of Diseases
- Genetics and Heredity
- Genetic Diseases
- Gene Therapy