IGBMC : Institut de la Génétique et de la Biologie Moléculaire et Cellulaire

• Researchers

  Valérie BIANCALANA

  Johann BOHM

  Belinda COWLING

  Jocelyn LAPORTE

• Post-Doctoral Fellows

  Valentina Maria LIONELLO

• PhD Students

  Coralie BORNE

  Sarah DJEDDI

  Sarah DJERROUD

  Raquel GOMEZ OCA

  Xavière LORNAGE

  Xènia MASSANA MUNOZ

  Vasugi NATTARAYAN

  Roberto SILVA ROJAS

• Engineers & Technicians

  Clément CANU

  Laurine DAGUET

  Amandine GIRARD

  Christine KRETZ

• Collaborateur Occasionnel

  Kirsley CHENNEN

Translational medicine and neurogenetics

Pathophysiology of neuromuscular diseases

We study rare and severe neuromuscular disorders caused by mutations in proteins affecting organelles and membrane trafficking. Our principle focus is on three families of proteins that regulate or are regulated by membrane lipids: the phosphoinositide phosphatase myotubularins, the membrane remodelling amphiphysins and the membrane fissioning GTPase dynamins. Both myotubularins and dynamin 2 are mutated in centronuclear myopathies, severe congenital myopathies characterized by mislocalisation of nuclei and in Charcot-Marie-Tooth peripheral neuropathies, suggesting a common mechanism.
While focusing on these genetic diseases, our approaches are multidisciplinary and encompass the identification of the implicated genes by high-throughput sequencing, the study of the molecular and cellular functions of these proteins in cells and in C. elegans, the validation of mammalian disease models, and the use of viral vectors (AAVs) for pathophysiology studies and preclinical therapeutic trials. In parallel, we study the function of these proteins in skeletal muscle under normal and pathological conditions through the development of novel imaging methods (correlative microscopy and in vivo imaging) in close contact with the IGBMC platforms.

• Current projects

  - Identification of molecular basis for congenital myopathies by next generation sequencing
  - Membrane and organelles trafficking in skeletal muscle under normal and pathological conditions
  - Characterization of faithful animal models for human myopathies
  - Pre-clinical trials in animal models for congenital myopathies

• Collaborations

  - European consortium on myotubular/centronuclear myopathies sponsored by ENMC (J Laporte is co-chairman)
  - A Beggs, Cildren’s Hospital, Boston, USA: “Molecular basis and pathophysiology of congenital myopathies”
  - A Bolino, San Raffaele Institute, Milano, Italy: “Pathophysiology of neuromuscular diseases due to mutations in several myotubularins” (European E-rare grant)
  - NB Romero, B Eymard, Myology Institute and Centre de Référence de Pathologie Neuromusculaire, AP-HP, Paris, France: “Identification of novel genes for congenital myopathies” (Contrat Hospitalier de Recherche Translationnelle to J Laporte)
  - JL Mandel, Genetic diagnosis laboratory, Strasbourg Hospital, France: “Next generation sequencing for disease genes identification and diagnosis”
  - B Payrastre, U563, Toulouse, France: “Roles of the phosphoinositides PtdIns3P, PtdIns(3,5)P2 and PtdIns5P in cell signalling and trafficking; implication in human disease”

• Prizes/Awards

  • Jocelyn LAPORTE - Scientific prize - Comité Alsace de la Fondation pour la Recherche Médicale (FRM) - 2014
  • Jocelyn LAPORTE - Prix Jean Valade - Fondation de France - 2013
  • Ivana ZIVKOVIC - Best oral presentation prize - Best oral presentation prize at International Myology Congress - 2011
  • Leonela AMOASII - Best oral presentation prize - Journée Campus d'Illkirch - 2011
  • Johann BOHM - Best oral presentation prize - Journée Campus d'Illkirch - 2010
  • Karim HNIA - Best oral presentation prizen at the World Muscle Society congress (Japan) - Elsevier - 2010
  • Belinda COWLING - Best poster presentation prize at the World Muscle Society congress, Switzerland - Elsevier - 2009
  • Johann BOHM - Best poster presentation prize at the World Muscle Society congress, Switzerland - Elsevier - 2009
  • Jocelyn LAPORTE - Pediatric Pathology Research Senior Prize - Association pour l'étude de la pathologie pédiatrique - Assistance Publique des Hôpitaux de Paris - 2009
  • Jocelyn LAPORTE - Scientific Prize - Association LEYLA Karam de lutte contre les maladies orphelines - 2008
  • Jocelyn LAPORTE - Scientific Prize - Comité Alsace de la Fondation pour la Recherche Médicale (FRM) - 2007

• News

  • March 20, 2019 - A new therapeutic strategy for myotubular myopathy
  • Jan. 30, 2019 - Identification of a new gene involved in myopathies
  • July 6, 2018 - A success story coming from IGBMC research, beating national records
  • Feb. 14, 2018 - New strategy for the treatment of myotubular myopathy
  • Nov. 14, 2017 - Dynamine, a therapeutic target for different myopathies
  • July 19, 2017 - A new therapeutic approach for myotubular myopathy
  • June 7, 2017 - Centronuclear myopathy: towards the development of a therapy
  • Dec. 23, 2016 - Characterization of a new class of congenital myopathies
  • Oct. 26, 2015 - Amphiphysin: a key hub for nuclear positioning
  • June 5, 2015 - High resolution in vivo images of Zebrafish to understand proteinopathies
  • Feb. 24, 2014 - An exciting breakthrough for the treatment of Centronuclear myopathies
  • Jan. 17, 2013 - A new gene involved in myopathies
  • April 21, 2012 - Major breakthrough for neuromuscular diseases diagnosis
  • Dec. 6, 2010 - Myopathies, Research in progress : the desmine/myotubularine complexe offers new therapeutic hopes

• Publications

  • 214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015.

    Donkervoort S(1), Dowling JJ(2), Laporte J(3), MacArthur D(4), Bonnemann CG(1); 214th ENMC workshop participants.

    Neuromuscul Disord July 13, 2019 .

  • Abnormal Excitation-Contraction Coupling and Calcium Homeostasis in Myopathies and Cardiomyopathies.

    Schartner V(1)(2)(3)(4), Laporte J(1)(2)(3)(4), Bohm J(1)(2)(3)(4).

    J Neuromuscul Dis July 24, 2019 .

  • Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes.

    Rabai A(1), Reisser L(1), Reina-San-Martin B(1), Mamchaoui K(2), Cowling BS(1), Nicot AS(1), Laporte J(3).

    Mol Ther Nucleic Acids June 7, 2019 ; 16:246-256 .

  • HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes.

    Berardo A(1), Lornage X(2), Johari M(3)(4), Evangelista T(5)(6), Cejas C(7), Barroso F(7), Dubrovsky A(8), Bui MT(5), Brochier G(5)(6), Saccoliti M(9), Bohm J(2), Udd B(4)(10), Laporte J(2), Romero NB(11)(12), Taratuto AL(9).

    J Neurol July 2, 2019 .

  • Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.

    Lionello VM(1)(2)(3)(4), Nicot AS(1)(2)(3)(4)(5)(6), Sartori M(1)(2)(3)(4), Kretz C(1)(2)(3)(4), Kessler P(1)(2)(3)(4), Buono S(1)(2)(3)(4), Djerroud S(1)(2)(3)(4), Messaddeq N(1)(2)(3)(4), Koebel P(1)(2)(3)(4), Prokic I(1)(2)(3)(4), Herault Y(1)(2)(3)(4), Romero NB(7)(8)(9), Laporte J(10)(2)(3)(4), Cowling BS(1)(2)(3)(4).

    Sci Transl Med March 20, 2019 ; 11:eaav1866 .

  • Phosphoglycerate kinase deficiency: a nationwide multicenter retrospective study.

    Echaniz-Laguna A(1)(2)(3), Nadjar Y(4), Behin A(4), Biancalana V(5)(6), Piraud M(7), Malfatti E(8), Laforet P(8).

    J Inherit Metab Dis March 19, 2019 .

  • ACTN2 mutations cause "Multiple structured Core Disease" (MsCD).

    Lornage X(1)(2)(3)(4), Romero NB(5)(6)(7), Grosgogeat CA(8), Malfatti E(6)(7)(9), Donkervoort S(10), Marchetti MM(8), Neuhaus SB(10), Foley AR(10), Labasse C(6)(7), Schneider R(1)(2)(3)(4), Carlier RY(11)(12), Chao KR(13), Medne L(14), Deleuze JF(15), Orlikowski D(16), Bonnemann CG(10), Gupta VA(8), Fardeau M(5)(6)(7), Bohm J(1)(2)(3)(4), Laporte J(17)(18)(19)(20).

    Acta Neuropathol Mar 2019 ; 137:501-519 .

  • 'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

    Garibaldi M(1)(2), Rendu J(3)(4), Brocard J(4), Lacene E(5), Faure J(3)(4), Brochier G(5), Beuvin M(6), Labasse C(5), Madelaine A(5), Malfatti E(7)(8), Bevilacqua JA(9)(10), Lubieniecki F(11), Monges S(11), Taratuto AL(12), Laporte J(13)(14)(15)(16), Marty I(4), Antonini G(17), Romero NB(5)(6).

    Acta Neuropathol Commun Jan. 5, 2019 ; 7:3 .

  • Regulation of Brain DNA Methylation Factors and of the Orexinergic System by Cocaine and Food Self-Administration.

    Saad L(1)(2), Sartori M(1)(3), Pol Bodetto S(1), Romieu P(1), Kalsbeek A(2)(4), Zwiller J(1), Anglard P(5)(6).

    Mol Neurobiol Jan. 2, 2019 ; 56:5315-5331 .

  • STIM1 over-activation generates a multi-systemic phenotype affecting skeletal muscle, spleen, eye, skin, bones, and the immune system in mice.

    Silva-Rojas R(1), Treves S(2), Jacobs H(1)(3), Kessler P(1), Messaddeq N(1), Laporte J(1), Bohm J(1).

    Hum Mol Genet May 15, 2019 ; 28:1579-1593 .

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• Videos

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  • La recherche à l'IGBMC progresse grâce aux dons

• Thesis subjects

  • Mécanismes Et Cibles Thérapeutiques Pour Les Myopathies Congénitales (H/F)
  • Identification De Nouveaux Genes Impliqués Dans Les Myopathies Congénitales: Nouveaux Diagnostics Et Cibles Thérapeutiques (H/F)
  • Analyse Intégrée De Données Omiques Pour Identifier Les Mécanimes Pathologiques Et Traitements Potentiels Dans Les Myopathies Congénitales (H/F)