Zoha Kibar
- Professeure agrégée
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Faculté de médecine - Département de neurosciences
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
Teaching
Courses taught (current session only)
Programs
Student supervision
Theses and dissertation supervision (Papyrus Institutional Repository)
Morphogenèse de la thyroïde : de l'humain au poisson-zèbre
Cycle : Doctoral
Grade : Ph. D.
Le rôle du gène de la polarité apico-basale SCRIBBLE1 dans les anomalies de tube neural
Cycle : Doctoral
Grade : Ph. D.
Caractérisation moléculaire et fonctionnelle d'un nouvel allèle du gène de la polarité cellulaire planaire (PCP) Vangl2
Cycle : Master's
Grade : M. Sc.
Anomalies du tube neural : mieux comprendre les causes génétiques de cette pathologie complexe
Cycle : Doctoral
Grade : Ph. D.
Role of the Protein Tyrosine Kinase 7 gene in human neural tube defects
Cycle : Master's
Grade : M. Sc.
Études génétiques moléculaires des gènes de la polarité planaire cellulaire dans les anomalies du tube neural chez l’Homme
Cycle : Doctoral
Grade : Ph. D.
Identification et caractérisation d’une souris mutante Skam26Jus comme un nouveau modèle des anomalies du tube neural
Cycle : Master's
Grade : M. Sc.
Analyse génétique moléculaire du gène de la voie non-canonique Frizzled/Dishevelled PRICKLE1 dans les anomalies du tube neural chez l’humain
Cycle : Master's
Grade : M. Sc.
Malformation Chiari-Like : l’investigation d’une maladie complexe par l’utilisation d’un modèle canin
Cycle : Master's
Grade : M. Sc.
Études génétiques moléculaires du gène de la polarité planaire SCRIBBLE1 chez les anomalies du tube neural
Cycle : Master's
Grade : M. Sc.
Projects
Research projects
Investigating the role of notochord defects in the etiopathogenesis of congenital scoliosis
Molecular crosstalk between apicalbasal polarity and planar cell polarity in axon guidance
Investigating the role of planar cell polarity signaling in cell migration and invasion in acute myeloid leukemia
Investigating the role of planar cell polarity signaling in cell migration and invasion in acute myeloid leukemia
Multimode determination of gene transcription and metabolic labeling
Supplément COVID-19 CRSNG_Molecular crosstalk between apicalbasal polarity and planar cell polarity in axon guidance
Investigating the role of planar cell polarity signaling in cell migration and invasion in acute myeloid leukemia.
DE NOVO MUTATIONS IN BIRTH DEFECTS
IDENTIFICATION AND CHARACTERIZATION OF GENES PREDISPOSING TO NEURAL TUBE DEFECTS IN HUMANS
MOLECULAR CROSSTALK BETWEEN APICAL-BASAL POLARITY AND PLANAR CELL POLARITY IN AXON GUIDANCE
Canadian "rare diseases: models & mechanisms" network (RDMM) / Réseau canadien "maladies rares : modèles et mécanismes" (MRMM).
Études génétiques moléculaires et fonctionnelles du syndrome PDAC
Identification of gene(s) predisposing to syringomyelia associated with Chiari-like malformation in the Cavalier King Charles spaniels.
(RESEAUTETE) - THE INTEGRATED RESEARCH NETWORK ON PERINATOLOGY
(RESEAUTETE) CIHR - QUEBEC TRAINING NETWORK IN PERINATAL RESEARCH
IDENTIFICATION DES GENES PREDISPOSANT AUX ANOMALIES DES STRUCTURES DORSOMEDIALES DES SYSTEMES NERVEUX CENTRAL ET SQUELETTIQUE
IDENTIFICATION DES GÈNES PRÉDISPOSANT AUX ANOMALIES DES STRUCTURES DORSOMÉDIALES DES SYSTÈMES NERVEUX CENTRAL ET SQUELETTIQUE
IDENTIFICATION OF THE GENE(S) PREDISPOSING TO CHIARI MALFORMATION I USING THE GRIFFON BRUXELLOIS DOG MODEL
PLATEFORME D'INNOVATION EN GENOMIQUE DES SCOLIOSES PEDIATRIQUES (GSP): DES GENES AUX TESTS DIAGNOSTIQUES COMPLETS
IDENTIFICATION OF THE GENE(S) PREDISPOSING TO CHIARI MALFORMATION I USING THE GRIFFON BRUXELLOIS DOG MODEL
IDENTIFICATION DES GENES PREDISPOSANT AUX ANOMALIES DES STRUCTURES DORSOMEDIALES DES SYSTEMES NERVEUX CENTRAL ET SQUELETTIQUE.
IDENTIFICATION AND CHARACTERIZATION OF GENES PREDISPOSING TO NEURAL TUBE DEFECTS IN HUMANS
Disciplines
- Neurosciences
- Biochemistry