Gregor U. Andelfinger , M.D. , Ph.D.
    Gregor U. Andelfinger
    Research Axis
    Fetomaternal and Neonatal Pathologies Axis
    Research Theme
    Mechanisms for congenital anomalies
    CHUSJ - Centre de Recherche

    514 345-4931 #3244

    514 345-4801


    • Cardiologist Pediatrician, CHU Sainte-Justine
    • Full Professor, Department of Pediatrics, Université de Montréal


    • Postdoctoral studies, Institut de recherches cliniques de Montréal, 2003-2005
    • Postdoctoral studies, Cincinnati Children’s Hospital, USA, 2001-2003
    • Fellowship in Pediatric Cardiology, CHU Sainte-Justine, Montréal, and Medical University of South Carolina, USA, 1999-2001

    Research Interests

    Human genetics of cardiac malformations

    Why are some children born with cardiac malformations? Why are there families with several cases of cardiac malformations? Over the last decade, our knowledge of molecular cascades regulating cardiac development and tools for genetic dissection of human disease traits have rapidly expanded. We have now put together a large cohort of multiplex families, i.e. with several affected members, with an emphasis on left ventricular outflow tract obstructions (200+ families, 1500+ probands enrolled). We are using SNP genotyping for linkage and association analysis, as well as the identification of copy number variants which may be causative for the diseases we study. Our goal is to identify novel chromosomal regions and genes causing congenital heart disease. We have recently identified a novel syndrome of aortic stenosis, septal defects and atrial fibrillation on chromosome Xq28. Ultimately, our goal is to establish genotype-phenotype correlations, in order to develop better diagnostic strategies and therapeutic stratification for patients with congenital heart disease.

    Developmental biology of the cardiovascular system in Xenopus laevis

    The morphogenetic cascades in cardiac morphogenesis are highly conserved among vertebrates. Important processes, such as the induction of the heart forming fields, the formation of the linear heart tube, and the morphogenesis of valves and chambers, show high similarity at the molecular level between most species. We have chosen the frog Xenopus laevis for our studies, since this model offers great ease of embryo manipulation and a large array of loss- and gain-of-function techniques, such as morpholino or RNA injection. In these studies, we use molecular techniques, confocal microscopy and 3D reconstructions of the developing heart to study signalling cascades in heart development. In particular, we propose that intracellular trafficking of receptors, such as members of the sorting nexin family, is an important event governing cell fate and behaviour in heart morphogenesis.

    Awards and Distinctions

    • Research Scholars – Senior, FRQS, 2014-2017
    • Clinician Scientist II, CIHR, 2011-2013
    • Clinician Scientist II, CIHR, 2008-2010
    • Clinician Scientist I, CIHR, 2005-2007
    • Young Investigator Award, American Academy of Pediatrics, 2002
    • Fellowship, American Heart Association, 2002


    The Rendez-vous d'hémato-oncologie pédiatrique

    La cardiotoxicité postanthracyclines: du diagnostic à la prévention (in French only)


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