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Health Sciences; Natural Sciences and Engineering

Zoha Kibar

Professeure sous octroi agrégée

Faculté de médecine - Département d'obstétrique-gynécologie

zoha.kibar@umontreal.ca

Professeure sous octroi agrégée

Faculté de médecine - Département de neurosciences

zoha.kibar@umontreal.ca

Secondary numbers: 514 345-4931 #3984 (Travail 1) 514 345-4801 (Télécopieur)
Secondary email: zoha.kibar@recherche-ste-justine.qc.ca (Travail)

Profile

Research expertise

We use the tools of genetics, genomics and molecular biology to identify and characterize the genes predisposing to congenital malformations of the central nervous system (CNS) and the associated axial skeletal structures. Our laboratory is particularly interested in understanding the genetic and biological basis of two such malformations: neural tube defects (NTDs) and Chiari I malformation (CMI). These anomalies have a multifactorial etiology involving genetic and environmental factors that remain largely unknown.

Neural tube defects (NTDs), including spina bifida and anencephaly, represent a group of very common congenital malformations in humans, affecting 1-2 infants per 1000 births. They are caused by a partial or complete failure of the neural tube to close during embryogenesis. During my postdoctoral studies, I identified the gene mutated in Loop-tail, a well-established model for the study of NTDs in humans. This gene, designated as Vangl2, forms part of the non-canonical Frizzled (Fz)/Dishevelled (Dvl) membrane signaling pathway controlling the morphogenetic process of convergent extension (CE) that is central to gastrulation and neural tube closure. We recently identified mutations in a human homolog called VANGL1 that are associated with neural tube defects in humans, representing the first report of pathogenic mutations in a specific gene in human NTDs. For identification of novel genes involved in NTDs, we are pursuing three major approaches: (1) molecular genetic investigation of VANGL1, VANGL2 and other members of the non-canonical Fz/Dvl pathway in human NTDs, (2) molecular genetic studies of other novel chemically-induced mouse models and (3) whole-genome analysis of copy number variants using the array Comparative Genomic Hybridization technology.Chiari I malformation (CMI) is a common abnormality of the craniocerebral junction characterized by a caudal descent of the cerebellar tonsils into the spinal canal. CMI in humans is similar to a common condition in the Cavalier King Charles Spaniels (CKCS) and Brussels Griffon dog breeds. We will identify the gene(s) defective in CMI in the dog using linkage and association studies followed by a positional candidate gene approach. We will next investigate the human ortholog(s) of the dog CMI gene(s) to identify and characterize the gene(s) defective in CMI in humans.Our studies of NTDs and CMI will help better understand the underlying pathological mechanisms and are crucial for studying and characterizing the gene-environment interactions in these diseases. Gene-environment studies will help design novel preventive strategies and better counseling for couples at risk. Furthermore, these studies will help elucidate some of the molecular and cellular mechanisms underlying the early development of the neural tube and its derivatives.

Affiliations and responsabilities

Research affiliations

Teaching and supervision

Student supervision

Theses and dissertation supervision (Papyrus Institutional Repository)

2018

Le rôle du gène de la polarité apico-basale SCRIBBLE1 dans les anomalies de tube neural

Graduate : Kharfallah, Fares
Cycle : Doctoral
Grade : Ph. D.
2018

Anomalies du tube neural : mieux comprendre les causes génétiques de cette pathologie complexe

Graduate : Lemay, Philippe
Cycle : Doctoral
Grade : Ph. D.
2016

Role of the Protein Tyrosine Kinase 7 gene in human neural tube defects

Graduate : Wang, Mingqin
Cycle : Master's
Grade : M. Sc.

Projects

Research projects

2018 - 2024

Molecular crosstalk between apicalbasal polarity and planar cell polarity in axon guidance

Lead researcher : Zoha Kibar
Funding sources: CRSNG/Conseil de recherches en sciences naturelles et génie du Canada (CRSNG)
Grant programs: PVX20965-(RGP) Programme de subvention à la découverte individuelle ou de groupe
2020 - 2022

Multimode determination of gene transcription and metabolic labeling

Lead researcher : André Tremblay
Co-researchers : Elie Haddad , Zoha Kibar , Graciela Pineyro Filpo , Gilles Hickson
Funding sources: CRSNG/Conseil de recherches en sciences naturelles et génie du Canada (CRSNG)
Grant programs: PVXXXXXX-(OIR) Outils et d'instruments de recherche (OIR) -1 -(de 7 001 $ à 150 000 $)
2018 - 2020

Investigating the role of planar cell polarity signaling in cell migration and invasion in acute myeloid leukemia.

Lead researcher : Zoha Kibar
Funding sources: Fondation Charles Bruneau
Grant programs:
2014 - 2020

DE NOVO MUTATIONS IN BIRTH DEFECTS

Lead researcher : Jacques Michaud
Co-researchers : Zoha Kibar
Funding sources: IRSC/Instituts de recherche en santé du Canada
Grant programs: PVXX5647-Subvention de fonctionnement incluant les subventions de fonctionnement programmatiques
2013 - 2020

IDENTIFICATION AND CHARACTERIZATION OF GENES PREDISPOSING TO NEURAL TUBE DEFECTS IN HUMANS

Lead researcher : Zoha Kibar
Funding sources: IRSC/Instituts de recherche en santé du Canada
Grant programs: PVXX5647-Subvention de fonctionnement incluant les subventions de fonctionnement programmatiques
2013 - 2019

MOLECULAR CROSSTALK BETWEEN APICAL-BASAL POLARITY AND PLANAR CELL POLARITY IN AXON GUIDANCE

Lead researcher : Zoha Kibar
Funding sources: CRSNG/Conseil de recherches en sciences naturelles et génie du Canada (CRSNG)
Grant programs: PVX20965-(RGP) Programme de subvention à la découverte individuelle ou de groupe
2017 - 2018

Canadian "rare diseases: models & mechanisms" network (RDMM) / Réseau canadien "maladies rares : modèles et mécanismes" (MRMM).

Lead researcher : Philip A Hieter
Co-researchers : Zoha Kibar
Funding sources: IRSC/Instituts de recherche en santé du Canada
Grant programs: PVXXXXXX-Subvention de réseau
2016 - 2017

Études génétiques moléculaires et fonctionnelles du syndrome PDAC

Lead researcher : Zoha Kibar
Funding sources: Fondation du Grand défi Pierre Lavoie
Grant programs:
2014 - 2017

Identification of gene(s) predisposing to syringomyelia associated with Chiari-like malformation in the Cavalier King Charles spaniels.

Lead researcher : Zoha Kibar
Funding sources: Dogs Trust
Grant programs:
2008 - 2016

(RESEAUTETE) - THE INTEGRATED RESEARCH NETWORK ON PERINATOLOGY

Lead researcher : William Fraser
Funding sources: IRSC/Instituts de recherche en santé du Canada
Grant programs:
2009 - 2015

(RESEAUTETE) CIHR - QUEBEC TRAINING NETWORK IN PERINATAL RESEARCH

Lead researcher : William Fraser
Funding sources: FRQS/Fonds de recherche du Québec - Santé (FRSQ) , IRSC/Instituts de recherche en santé du Canada
Grant programs: PVXXXXXX-Subventions de recherche en partenariat ,
2007 - 2015

IDENTIFICATION DES GENES PREDISPOSANT AUX ANOMALIES DES STRUCTURES DORSOMEDIALES DES SYSTEMES NERVEUX CENTRAL ET SQUELETTIQUE

Lead researcher : Zoha Kibar
Funding sources: FRQS/Fonds de recherche du Québec - Santé (FRSQ)
Grant programs: PVXXXXXX-Bourse de chercheurs-boursiers: junior I et II et senior
2011 - 2014

IDENTIFICATION DES GÈNES PRÉDISPOSANT AUX ANOMALIES DES STRUCTURES DORSOMÉDIALES DES SYSTÈMES NERVEUX CENTRAL ET SQUELETTIQUE

2010 - 2014

IDENTIFICATION OF THE GENE(S) PREDISPOSING TO CHIARI MALFORMATION I USING THE GRIFFON BRUXELLOIS DOG MODEL

Lead researcher : Zoha Kibar
Co-researchers : Clare Rusbridge
Funding sources: IRSC/Instituts de recherche en santé du Canada
Grant programs: PVXX5647-Subvention de fonctionnement incluant les subventions de fonctionnement programmatiques
2010 - 2013

PLATEFORME D'INNOVATION EN GENOMIQUE DES SCOLIOSES PEDIATRIQUES (GSP): DES GENES AUX TESTS DIAGNOSTIQUES COMPLETS

Lead researcher : Alain Moreau
Co-researchers : Anne-Marie Laberge , Hubert Labelle , Zoha Kibar
Funding sources: Génome Québec
Grant programs:
2010 - 2013

IDENTIFICATION OF THE GENE(S) PREDISPOSING TO CHIARI MALFORMATION I USING THE GRIFFON BRUXELLOIS DOG MODEL

Lead researcher : Zoha Kibar
2008 - 2009

IDENTIFICATION DES GENES PREDISPOSANT AUX ANOMALIES DES STRUCTURES DORSOMEDIALES DES SYSTEMES NERVEUX CENTRAL ET SQUELETTIQUE.

Lead researcher : Zoha Kibar
2008

IDENTIFICATION AND CHARACTERIZATION OF GENES PREDISPOSING TO NEURAL TUBE DEFECTS IN HUMANS

Lead researcher : Zoha Kibar

Outreach

Publications and presentations

Disciplines

  • Neurosciences
  • Biochemistry