Sylvie ODENT



Équipe de Véronique DAVID

02 99 26 67 44


  • Chief of the Clinical Genetics department; CHU Rennes
  • Coordinator of rare diseases reference center CLAD-Ouest
  • President of the Clinical Genetics Francophone association
  • Head of the Committee of International Relations at the Faculty of Medicine


  • Responsible of the chair “Medical genetics” at the medical faculty of Rennes

Responsabilités partagées

  • Coordinator of the axis registers and databases of the network  health Rare diseases AnDDI-Rare (Anomalies of development and intellectual disabilities of rare cause)
  • Member of the Permanent Committee of the Rare Diseases Plan (Ministry of Health)
  • Member of the Working Group "Diagnostic Strategies" at the Biomedicine Agency
  • Member of the Scientific Council of the national French meeting of Human Genetics

En quelques mots

After my medical studies in Tours (France), I got my medical degree in 1985 and a PhD in sciences in 2000 at the University of Rennes 1 (topic: Genetics of holoprosencephaly). I was first specialized in pediatrics and secondarily in Medical Genetics. I am Professor of Genetics at the University Hospital of Rennes since 2001 and head of the Clinical Genetics Service.

My clinical activities: Genetic counseling consultations, fetal medicine, dysmorphology (patients with dysmorphy and / or malformations and / or intellectual disabilities), metabolic diseases.

Research fields: brain malformations (holoprosencephaly, rhombencephalosynapsis), intellectual disability

Publications majeures

  • Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders. Beaumont M, Akloul L, Carré W, Quélin C, Journel H, Pasquier L, Fradin M, Odent S, Hamdi-Rozé H, Watrin E, Dupé V, Dubourg C and David V. Human Genetics. 2019 Jan.

    Integrated Clinical and Omics Approach to Rare Diseases : Novel Genes and Oligogenic Inheritance in Holoprosencephaly. Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Le Douce J, Frex Consortium, GoNL Consortium, Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute 0, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V. Brain. 2019 Jan.

    Recent advances in understanding inheritance of holoprosencephaly. Dubourg C, Kim A, Watrin E, de Tayrac M, Odent S, David V, Dupé V. Am J Med Genet. C. 2018 May.

    A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity. Dykes IM, Szumska D, Kuncheria L, Puliyadi R, Chen CM, Papanayotou C, Lockstone H, Dubourg C, David V, Schneider JE, Keane TM, Adams DJ, Brown SDM, Mercier S, Odent S, Collignon J, Bhattacharya S. Sci Rep. 2018 Jul.

    Mutational Spectrum in Holoprosencephaly Shows That Fgf is a New Major Signaling Pathway. 
    Dubourg C, Carré W, Hamdi-Rozé H, Mouden C, Roume J, Abdelmajid B, Amram D, Baumann C, Chassaing N, Coubes C, Faivre-Olivier L, Ginglinger E, Gonzales M, Levy-Mozziconacci A, Lynch SA, Naudion S, Pasquier L, Poidvin A, Prieur F, Sarda P, Toutain A, Dupé V, Akloul L, Odent S, de Tayrac M, David V. Hum. Mutat. 2016 Jul.

    Osteopathia striata with cranial sclerosis: when a fetal malformation syndrome reveals maternal pathology.  Quélin C, Loget P, D'Hervé D, Fradin M, Milon J, Ferry M, Body-Bechou D, Tréguier C, Garcia Hoyos M, Odent S. Prenat Diagn 2015 Feb.

    NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryo. 
    Mercier S, David V, Ratié L, Gicquel I, Odent S, Dupé V.
    Dis Model Mech. 2013 Mar.

    New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
    Mercier S, Dubourg C, Garcelon N, Campillo-Gimenez B, Gicquel I, Belleguic M, Ratié L, Pasquier L, Loget P, Bendavid C, Jaillard S, Rochard L , Quélin C, Sinteff J-P, Dupé V, David V and Odent S.
    J Med Genet. 2011 Nov.

    Genetic counseling and “molecular” prenatal diagnosis of holoprosencephaly (HPE). Mercier S, Dubourg C, Belleguic M, Pasquier L, Loget P, Lucas J, Bendavid C, Odent S. Am J Med Genet C. 2010 Feb.

    Introduction to the American Journal of Medical Genetics Part C on holoprosencephaly. Muenke M, Solomon BD, Odent S. Am J Med Genet C. 2010 Feb.

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